List of CarrierCheck Max disorder
List of CarrierCheck Max disorder Fertility Selangor, Malaysia, Kuala Lumpur (KL), Bangi Lab Services | DNA Laboratories Sdn Bhd

Appendix: CarrierCheck MAX Diseases Detected Description

This test contains over 800 diseases associated with over 700 genes, as described in the following table:

Choose column to Search
No. Disease Name Gene
1 Ichthyosis, congenital, autosomal recessive 4B (harlequin) ABCA1 2
2 Ichthyosis, congenital, autosomal recessive 4A ABCA1 2
3 Surfactant metabolism dysfunction, pulmonary, 3 ABCA3
4 Retinitis pigmentosa 19 ABCA4
5 Cone-rod dystrophy 3 ABCA4
6 Cholestasis, progressive familial intrahepatic 2 ABCB1 1
7 Cholestasis, progressive familial intrahepatic 3 ABCB4
8 Adrenoleukodystrophy ABCD1
9 Methylmalonic aciduria and homocystinuria, cblJ type ABCD4
10 Sitosterolemia 2 ABCG 5
11 Sitosterolemia 1 ABCG 8
12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ABHD1 2
13 Chanarin-Dorfman syndrome ABHD5
14 Acyl-CoA dehydrogenase, medium chain, deficiency of ACAD M
15 Acyl-CoA dehydrogenase, short-chain, deficiency of ACAD S
16 2-methylbutyrylglycinuria ACAD SB
17 VLCAD deficiency ACAD VL
18 Alpha-methylacetoacetic aciduria ACAT1
19 Nemaline myopathy 3, autosomal dominant or recessive ACTA1
20 Myopathy, congenital, with fiber-type disproportion 1 ACTA1
21 Severe combined immunodeficiency due to ADA deficiency ADA
22 Weill-Marchesani syndrome 1, recessive ADAM TS10
23 Thrombotic thrombocytopenic purpura, hereditary ADAM TS13
24 Weill-Marchesani 4 syndrome, recessive ADAM TS17
25 Ehlers-Danlos syndrome, dermatosparaxis type ADAM TS2
26 Mental retardation, autosomal recessive 36 ADAT3
27 Cerebral palsy, spastic quadriplegic, 3 ADD3
28 Usher syndrome, type 2C ADGR V1
29 Adenylosuccinase deficiency ADSL
30 Aspartylglucosaminuria AGA
31 Glycogen storage disease III AGL
32 Lipodystrophy, congenital generalized, type 1 AGPAT 2
33 Rhizomelic chondrodysplasia punctata, type 3 AGPS
34 Hyperoxaluria, primary, type 1 AGXT
35 Joubert syndrome 3 AHI1
36 Leukodystrophy, hypomyelinating, 3 AIMP1
37 Cone-rod dystrophy AIPL1
38 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia AIRE
39 Reticular dysgenesis AK2
40 Bile acid synthesis defect, congenital, 2 AKR1D 1
41 Cutis laxa, autosomal recessive, type IIIA ALDH1 8A1
42 Spastic paraplegia 9B, autosomal recessive ALDH1 8A1
43 Sjogren-Larsson syndrome ALDH3 A2
44 Epilepsy, pyridoxine-dependent ALDH7 A1
45 Fructose intolerance, hereditary ALDO B
46 Ichthyosis, congenital, autosomal recessive 2 ALOX1 2B
47 Hypophosphatasia, adult ALPL
48 Hypophosphatasia, infantile ALPL
49 Hypophosphatasia, childhood ALPL
50 Amyotrophic lateral sclerosis 2, juvenile ALS2
51 Primary lateral sclerosis, juvenile ALS2
52 Spastic paralysis, infantile onset ascending ALS2
53 Frontonasal dysplasia 1 ALX3
54 Bile acid synthesis defect, congenital, 4 AMAC R
55 Myopathy due to myoadenylate deaminase deficiency AMPD 1
56 Glycine encephalopathy AMT
57 Muscular dystrophy, limb-girdle, autosomal recessive 12 ANO5
58 Miyoshi muscular dystrophy 3 ANO5
59 Hyaline fibromatosis syndrome ANTX R2
60 Hermansky-Pudlak syndrome 2 AP3B1
61 Spastic paraplegia 52, autosomal recessive AP4S1
62 Hypobetalipoproteinemia APOB
63 Diabetes insipidus, nephrogenic AQP2
64 Periventricular heterotopia with microcephaly ARFG EF2
65 Argininemia ARG1
66 Joubert syndrome 8 ARL13 B
67 Retinitis pigmentosa with or without situs inversus ARL2B P
68 Bardet-Biedl syndrome 3 ARL6
69 Metachromatic leukodystrophy ARSA
70 Mucopolysaccharidosis type VI (Maroteaux-Lamy) ARSB
71 Epileptic encephalopathy, early infantile, 38 ARV1
72 Epileptic encephalopathy, early infantile, 1 ARX
73 Spinal muscular atrophy with progressive myoclonic epilepsy ASAH1
74 Farber lipogranulomatosis ASAH1
75 Argininosuccinic aciduria ASL
76 Canavan disease ASPA
77 Microcephaly 5, primary, autosomal recessive ASPM
78 Citrullinemia ASS1
79 Ataxia-telangiectasia ATM
80 Cutis laxa, autosomal recessive, type IIA ATP6V 0A2
81 Wrinkly skin syndrome ATP6V 0A2
82 Menkes disease ATP7A
83 Wilson disease ATP7B
84 Cholestasis, progressive familial intrahepatic 1 ATP8B 1
85 Diabetes insipidus, nephrogenic AVPR2
86 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GAL T6
87 Ehlers-Danlos syndrome, spondylodysplastic type, 2 B3GAL T6
88 Peters-plus syndrome B3GLC T
89 Ehlers-Danlos syndrome, spondylodysplastic type, 1 B4GAL T7
90 Joubert syndrome 27 B9D1
91 Joubert syndrome 34 B9D2
92 Bardet-Biedl syndrome 1 BBS1
93 Bardet-Biedl syndrome 10 BBS10
94 Bardet-Biedl syndrome 12 BBS12
95 Bardet-Biedl syndrome 2 BBS2
96 Retinitis pigmentosa 74 BBS2
97 Bardet-Biedl syndrome 4 BBS4
98 Bardet-Biedl syndrome 5 BBS5
99 Bardet-Biedl syndrome 7 BBS7
100 Bardet-Biedl syndrome 9 BBS9
101 Maple syrup urine disease, type Ia BCKD HA
102 Maple syrup urine disease, type Ib BCKD HB
103 GRACILE syndrome BCS1L
104 Leigh syndrome BCS1L
105 Macular dystrophy, vitelliform, 2 BEST1
106 Retinitis pigmentosa-50 BEST1
107 Centronuclear myopathy 2 BIN1
108 Bloom syndrome BLM
109 Fanconi anemia, complementation group D1 BRCA2
110 Fanconi anemia, complementation group J BRIP1
111 Lipodystrophy, congenital generalized, type 2 BSCL2
112 Bartter syndrome, type 4a BSND
113 Biotinidase deficiency BTD
114 Agammaglobulinemia, X-linked 1 BTK
115 Isolated growth hormone deficiency, type III, with agammaglobulinemia BTK
116 Temtamy syndrome C12orf 57
117 Orofaciodigital syndrome XIV C2CD3
118 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis CA2
119 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 CA8
120 Muscular dystrophy, limb-girdle, autosomal recessive 1 CAPN3
121 Ventricular tachycardia, catecholaminergic polymorphic, 2 CASQ 2
122 Lipodystrophy, congenital generalized, type 4 CAVIN 1
123 Homocystinuria, B6-responsive and nonresponsive types CBS
124 Mental retardation, autosomal recessive 3 CC2D1 A
125 Joubert syndrome 9 CC2D2 A
126 Meckel syndrome 6 CC2D2 A
127 COACH syndrome CC2D2 A
128 Hennekam lymphangiectasia-lymphedema syndrome 1 CCBE1
129 Hydrocephalus, congenital, 1 CCDC 88C
130 Neuropathy, hereditary sensory, with spastic paraplegia CCT5
131 Lymphoproliferative syndrome 2 CD27
132 Immunodeficiency, X-linked, with hyper-IgM CD40L G
133 Dyserythropoietic anemia, congenital, type Ia CDAN 1
134 Deafness, autosomal recessive 32, with or without immotile sperm CDC14 A
135 Usher syndrome, type 1D/F digenic CDH23
136 Deafness, autosomal recessive 12 CDH23
137 Retinitis pigmentosa 65 CDHR 1
138 Microcephaly 3, primary, autosomal recessive CDK5 RAP2
139 Peeling skin syndrome 1 CDSN
140 Microcephaly 6, primary, autosomal recessive CENPJ
141 Microcephaly 9, primary, autosomal recessive CEP15 2
142 Senior-Loken syndrome 6 CEP29 0
143 Joubert syndrome 5 CEP29 0
144 Meckel syndrome 4 CEP29 0
145 Leber congenital amaurosis 10 CEP29 0
146 Retinitis pigmentosa 26 CERKL
147 Cystic fibrosis CFTR
148 Choroideremia CHM
149 Myasthenic syndrome, congenital, 1B, fast-channel CHRN A1
150 Multiple pterygium syndrome, lethal type CHRN A1
151 Multiple pterygium syndrome, lethal type CHRN G
152 Wolfram syndrome 2 CISD2
153 Microcephaly 17, primary, autosomal recessive CIT
154 Filippi syndrome CKAP2 L
155 Osteopetrosis, autosomal recessive 4 CLCN7
156 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis CLDN1
157 Deafness, autosomal recessive 29 CLDN1 4
158 Hypomagnesemia 3, renal CLDN1 6
159 Ceroid lipofuscinosis, neuronal, 3 CLN3
160 Ceroid lipofuscinosis, neuronal, 5 CLN5
161 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset CLN6
162 Ceroid lipofuscinosis, neuronal, 6 CLN6
163 Ceroid lipofuscinosis, neuronal, 8 CLN8
164 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant CLN8
165 Usher syndrome, type 3A CLRN1
166 Retinitis pigmentosa 61 CLRN1
167 Retinitis pigmentosa 49 CNGA 1
168 Retinitis pigmentosa 45 CNGB 1
169 Lethal congenital contracture syndrome 7 CNTN AP1
170 Hypomyelinating neuropathy, congenital, 3 CNTN AP1
171 Congenital disorder of glycosylation, type IIl COG6
172 Shaheen syndrome COG6
173 Stickler syndrome, type II COL11 A1
174 Epidermolysis bullosa, junctional, non-Herlitz type COL17 A1
175 Ehlers-Danlos syndrome, cardiac valvular type COL1A 2
176 Alport syndrome 2, autosomal recessive COL4A 3
177 Alport syndrome 2, autosomal recessive COL4A 4
178 Alport syndrome 1, X-linked COL4A 5
179 Bethlem myopathy 1 COL6A 1
180 Ullrich congenital muscular dystrophy 1 COL6A 1
181 Epidermolysis bullosa dystrophica, AR COL7A 1
182 Epidermolysis bullosa pruriginosa COL7A 1
183 Stickler syndrome, type IV COL9A 1
184 Coenzyme Q10 deficiency, primary, 1 COQ2
185 Coenzyme Q10 deficiency, primary, 4 COQ8 A
186 Nephrotic syndrome, type 9 COQ8 B
187 Joubert syndrome 17 CPLAN E1
188 Carbamoylphosphate synthetase I deficiency CPS1
189 Retinitis pigmentosa-12 CRB1
190 Leber congenital amaurosis 8 CRB1
191 Focal segmental glomerulosclerosis 9 CRB2
192 Ventriculomegaly with cystic kidney disease CRB2
193 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 CRPP A
194 Osteogenesis imperfecta, type VII CRTAP
195 Leber congenital amaurosis 7 CRX
196 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related CRYAB
197 Cataract 16, multiple types CRYAB
198 Joubert syndrome 21 CSPP1
199 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) CSTB
200 Cerebroretinal microangiopathy with calcifications and cysts CTC1
201 Cystinosis, nephropathic CTNS
202 Cystinosis, late-onset juvenile or adolescent nephropathic CTNS
203 Galactosialidosis CTSA
204 Ceroid lipofuscinosis, neuronal, 10 CTSD
205 Ceroid lipofuscinosis, neuronal, 13, Kufs type CTSF
206 Megaloblastic anemia-1, Finnish type CUBN
207 3-M syndrome 1 CUL7
208 Methemoglobinemia CYB5R 3
209 Chronic granulomatous disease, autosomal, due to deficiency of CYBA CYBA
210 Chronic granulomatous disease, X-linked CYBB
211 Mitochondrial complex III deficiency, nuclear type 6 CYC1
212 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency CYP11 B1
213 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency CYP21 A2
214 Cerebrotendinous xanthomatosis CYP27 A1
215 Spastic paraplegia 56, autosomal recessive CYP2U 1
216 Ichthyosis, congenital, autosomal recessive 5 CYP4F 22
217 Bietti crystalline corneoretinal dystrophy CYP4V 2
218 Bile acid synthesis defect, congenital, 3 CYP7B 1
219 Maple syrup urine disease, type II DBT
220 Woodhouse-Sakati syndrome DCAF1 7
221 Nephronophthisis 19 DCDC 2
222 Sclerosing cholangitis, neonatal DCDC 2
223 Xeroderma pigmentosum, group E, DDB-negative subtype DDB2
224 Spastic paraplegia 54, autosomal recessive DDHD 2
225 Spondylometaepiphyseal dysplasia, short limb-hand type DDR2
226 Warsaw breakage syndrome DDX11
227 Orofaciodigital syndrome V DDX59
228 Smith-Lemli-Opitz syndrome DHCR 7
229 Retinitis pigmentosa 59 DHDD S
230 Perlman syndrome DIS3L2
231 Dyskeratosis congenita, X-linked DKC1
232 Dihydrolipoamide dehydrogenase deficiency DLD
233 Becker muscular dystrophy DMD
234 Duchenne muscular dystrophy DMD
235 Cardiomyopathy, dilated, 3B DMD
236 Ciliary dyskinesia, primary, 3, with or without situs inversus DNAH 5
237 Ciliary dyskinesia, primary, 1, with or without situs inversus DNAI1
238 Ciliary dyskinesia, primary, 9, with or without situs inversus DNAI2
239 Ceroid lipofuscinosis, neuronal, 4, Parry type DNAJC 5
240 Systemic lupus erythematosus 16 DNAS E1L3
241 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT 3B
242 Adams-Oliver syndrome 2 DOCK 6
243 Dihydropyrimidine dehydrogenase deficiency DPYD
244 Dihydropyrimidinuria DPYS
245 Arrhythmogenic right ventricular dysplasia 11 DSC2
246 Cardiomyopathy, dilated, with woolly hair and keratoderma DSP
247 Spastic paraplegia 23 DSTYK
248 Short-rib thoracic dysplasia 3 with or without polydactyly DYNC 2H1
249 Muscular dystrophy, limb-girdle, autosomal recessive 2 DYSF
250 Miyoshi muscular dystrophy 1 DYSF
251 Urbach-Wiethe disease ECM1
252 Ectodermal dysplasia 1, hypohidrotic, X-linked EDA
253 Waardenburg syndrome, type 4B EDN3
254 Waardenburg syndrome, type 4A EDNR B
255 Pulmonary venoocclusive disease 2 EIF2A K4
256 Ichthyosis, spastic quadriplegia, and mental retardation ELOVL 4
257 Dysautonomia, familial ELP1
258 Cerebellar atrophy, visual impairment, and psychomotor retardation EMC1
259 Emery-Dreifuss muscular dystrophy 1, X-linked EMD
260 Arterial calcification, generalized, of infancy, 1 ENPP1
261 Vici syndrome EPG5
262 Epilepsy, progressive myoclonic 2A (Lafora) EPM2 A
263 Xeroderma pigmentosum, group D ERCC 2
264 Trichothiodystrophy 1, photosensitive ERCC 2
265 Xeroderma pigmentosum, group B ERCC 3
266 Xeroderma pigmentosum, group F ERCC 4
267 Fanconi anemia, complementation group Q ERCC 4
268 Xeroderma pigmentosum, group G ERCC 5
269 Cockayne syndrome, type B ERCC 6
270 Cockayne syndrome, type A ERCC 8
271 Spastic paraplegia 18, autosomal recessive ERLIN 2
272 Deafness, autosomal recessive 36 ESPN
273 Deafness, autosomal recessive 35 ESRR
274 Glutaric acidemia IIA ETFA
275 Glutaric acidemia IIB ETFB
276 Glutaric acidemia IIC ETFDH
277 Ellis-van Creveld syndrome EVC
278 Ellis-van Creveld syndrome EVC2
279 Seizures, scoliosis, and macrocephaly syndrome EXT2
280 Retinitis pigmentosa 25 EYS
281 Factor X deficiency F10
282 Factor XI deficiency, autosomal recessive F11
283 Factor XIIIA deficiency F13A1
284 Hypoprothrombinemia F2
285 Factor V deficiency F5
286 Factor VII deficiency F7
287 Hemophilia A F8
288 Hemophilia B F9
289 Spastic paraplegia 35, autosomal recessive FA2H
290 Tyrosinemia, type I FAH
291 Retinitis pigmentosa 28 FAM16 1A
292 Fanconi anemia, complementation group A FANCA
293 Fanconi anemia, complementation group C FANC C
294 Fanconi anemia, complementation group D2 FANC D2
295 Fanconi anemia, complementation group E FANCE
296 Fanconi anemia, complementation group G FANC G
297 Fanconi anemia, complementation group I FANCI
298 Fanconi anemia, complementation group L FANCL
299 Cutis laxa, autosomal recessive, type IA FBLN5
300 Fructose-1,6-bisphosphatase deficiency FBP1
301 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) FBXL4
302 Parkinson disease 15, autosomal recessive FBXO7
303 Afibrinogenemia, congenital FGA
304 Afibrinogenemia, congenital FGB
305 Charcot-Marie-Tooth disease, type 4H FGD4
306 Deafness, congenital with inner ear agenesis, microtia, and microdontia FGF3
307 Charcot-Marie-Tooth disease, type 4J FIG4
308 Osteogenesis imperfecta, type XI FKBP1 0
309 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 FKRP
310 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 FKTN
311 Cardiomyopathy, dilated, 1X FKTN
312 Spondylocarpotarsal synostosis syndrome FLNB
313 Fragile X tremor/ataxia syndrome FMR1
314 Fragile X syndrome FMR1
315 Enlarged vestibular aqueduct FOXI1
316 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked FOXP3
317 Fraser syndrome 1 FRAS1
318 Fraser syndrome 2 FREM 2
319 Friedreich ataxia FXN
320 Glycogen storage disease Ia G6PC
321 Neutropenia, severe congenital 4, autosomal recessive G6PC3
322 Hemolytic anemia, G6PD deficient (favism) G6PD
323 Glycogen storage disease II GAA
324 Krabbe disease GALC
325 Galactose epimerase deficiency GALE
326 Galactokinase deficiency with cataracts GALK1
327 Mucopolysaccharidosis IVA GALN S
328 Galactosemia GALT
329 Gaucher disease, type I GBA
330 Gaucher disease, type II GBA
331 Gaucher disease, type III GBA
332 Gaucher disease, type IIIC GBA
333 Gaucher disease, perinatal lethal GBA
334 Glycogen storage disease IV GBE1
335 Glutaricaciduria, type I GCDH
336 Hyperphenylalaninemia, BH4-deficient, B GCH1
337 Charcot-Marie-Tooth disease, type 4A GDAP 1
338 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis GDAP 1
339 Charcot-Marie-Tooth disease, recessive intermediate, A GDAP 1
340 Vitamin K-dependent clotting factors, combined deficiency of, 1 GGCX
341 Hypoplastic left heart syndrome 1 GJA1
342 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 GJB1
343 Deafness, autosomal recessive 1A GJB2
344 Deafness, digenic, GJB2/GJB3 GJB3
345 Deafness, digenic GJB2/GJB6 GJB6
346 Deafness, autosomal recessive 1B GJB6
347 Fabry disease GLA
348 GM1-gangliosidosis, type I GLB1
349 GM1-gangliosidosis, type II GLB1
350 GM1-gangliosidosis, type III GLB1
351 Mucopolysaccharidosis type IVB (Morquio) GLB1
352 Glycine encephalopathy GLDC
353 Hyperekplexia 1 GLRA1
354 Hyperekplexia 2 GLRB
355 Nonaka myopathy GNE
356 Rhizomelic chondrodysplasia punctata, type 2 GNPAT
357 Mucolipidosis II alpha/beta GNPT AB
358 Mucolipidosis III alpha/beta GNPT AB
359 Mucolipidosis III gamma GNPT G
360 Mucopolysaccharidosis type IIID GNS
361 Simpson-Golabi-Behmel syndrome, type 1 GPC3
362 Omodysplasia 1 GPC6
363 Ocular albinism, type I, Nettleship-Falls type GPR14 3
364 Chudley-McCullough syndrome GPSM 2
365 Spondylometaphyseal dysplasia, Sedaghatian type GPX4
366 Hyperoxaluria, primary, type II GRHP R
367 Ceroid lipofuscinosis, neuronal, 11 GRN
368 Deafness, autosomal recessive 25 GRXC R1
369 Leber congenital amaurosis 1 GUCY 2D
370 Cone-rod dystrophy 6 GUCY 2D
371 Mucopolysaccharidosis VII GUSB
372 Hyperinsulinemic hypoglycemia, familial, 4 HADH
373 LCHAD deficiency HADH A
374 Neutropenia, severe congenital 3, autosomal recessive HAX1
375 Thalassemias, alpha- HBA1
376 Thalassemia, alpha- HBA2
377 Sickle cell anemia HBB
378 Thalassemia, beta HBB
379 Tay-Sachs disease HEXA
380 Sandhoff disease, infantile, juvenile, and adult forms HEXB
381 Alkaptonuria HGD
382 Deafness, autosomal recessive 39 HGF
383 Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSN AT
384 Retinitis pigmentosa 73 HGSN AT
385 Holocarboxylase synthetase deficiency HLCS
386 HMG-CoA lyase deficiency HMGC L
387 HMG-CoA synthase-2 deficiency HMGC S2
388 Lesch-Nyhan syndrome HPRT1
389 Hermansky-Pudlak syndrome 1 HPS1
390 Hermansky-Pudlak syndrome 3 HPS3
391 Hermansky-Pudlak syndrome 4 HPS4
392 Hermansky-Pudlak syndrome 5 HPS5
393 Hermansky-Pudlak syndrome 6 HPS6
394 Urofacial syndrome 1 HPSE2
395 Apparent mineralocorticoid excess HSD11 B2
396 HSD10 mitochondrial disease HSD17 B10
397 D-bifunctional protein deficiency HSD17 B4
398 Bile acid synthesis defect, congenital, 1 HSD3B 7
399 Hydrolethalus syndrome HYLS1
400 Retinitis pigmentosa 46 IDH3B
401 Mucopolysaccharidosis II IDS
402 Mucopolysaccharidosis Ih IDUA
403 Mucopolysaccharidosis Ih/s IDUA
404 Mucopolysaccharidosis Is IDUA
405 Immunodeficiency 27A, mycobacteriosis, AR IFNGR 1
406 Short-rib thoracic dysplasia 9 with or without polydactyly IFT140
407 Retinitis pigmentosa 80 IFT140
408 Short-rib thoracic dysplasia 2 with or without polydactyly IFT80
409 Insulin-like growth factor I, resistance to IGF1R
410 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis IGFBP 7
411 Charcot-Marie-Tooth disease, axonal, type 2S IGHMB P2
412 Immunodeficiency 15B IKBKB
413 Inflammatory bowel disease 28, early onset, autosomal recessive IL10RA
414 Immunodeficiency 29, mycobacteriosis IL12B
415 Immunodeficiency 56 IL21R
416 Severe combined immunodeficiency, X-linked IL2RG
417 Psoriasis 14, pustular IL36R N
418 Leber congenital amaurosis 11 IMPDH 1
419 Retinitis pigmentosa 56 IMPG2
420 Joubert syndrome 1 INPP5 E
421 Leprechaunism INSR
422 Rabson-Mendenhall syndrome INSR
423 Nephronophthisis 2, infantile INVS
424 Senior-Loken syndrome 5 IQCB1
425 Hamamy syndrome IRX5
426 Epidermolysis bullosa, junctional, with pyloric stenosis ITGA6
427 Renal hypodysplasia/aplasia 1 ITGA8
428 Leukocyte adhesion deficiency ITGB2
429 Epidermolysis bullosa, junctional, non-Herlitz type ITGB4
430 Epidermolysis bullosa, junctional, with pyloric atresia ITGB4
431 Isovaleric acidemia IVD
432 SCID, autosomal recessive, T-negative/B-positive type JAK3
433 Jervell and Lange-Nielsen syndrome 2 KCNE1
434 Bartter syndrome, type 2 KCNJ1
435 Hyperinsulinemic hypoglycemia, familial, 2 KCNJ1 1
436 Leber congenital amaurosis 16 KCNJ1 3
437 Jervell and Lange-Nielsen syndrome KCNQ 1
438 Short-rib thoracic dysplasia 14 with polydactyly KIAA0 586
439 Joubert syndrome 23 KIAA0 586
440 Microcephaly 4, primary, autosomal recessive KNL1
441 Vertebral, cardiac, renal, and limb defects syndrome 2 KYNU
442 Hydrocephalus L1CAM
443 L-2-hydroxyglutaric aciduria L2HGD H
444 Muscular dystrophy, congenital, merosin deficient or partially deficient LAMA2
445 Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2
446 Epidermolysis bullosa, generalized atrophic benign LAMA3
447 Epidermolysis bullosa, junctional, Herlitz type LAMA3
448 Nephrotic syndrome, type 5, with or without ocular abnormalities LAMB2
449 Epidermolysis bullosa, junctional, non-Herlitz type LAMB3
450 Epidermolysis bullosa, junctional, Herlitz type LAMB3
451 Epidermolysis bullosa, junctional, non-Herlitz type LAMC2
452 Epidermolysis bullosa, junctional, Herlitz type LAMC2
453 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 LARGE 1
454 Perrault syndrome 4 LARS2
455 Leber congenital amaurosis 5 LCA5
456 Spondylocostal dysostosis 3, autosomal recessive LFNG
457 Deafness, autosomal recessive 67 LHFPL 5
458 Pituitary hormone deficiency, combined, 3 LHX3
459 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome LIFR
460 Cholesteryl ester storage disease LIPA
461 Wolman disease LIPA
462 Charcot-Marie-Tooth disease, type 2B1 LMNA
463 Hutchinson-Gilford progeria LMNA
464 Cardiomyopathy, dilated, 1A LMNA
465 Deafness, autosomal recessive 77 LOXHD 1
466 Leber congenital amaurosis 14 LRAT
467 Retinitis pigmentosa, juvenile LRAT
468 Immunodeficiency, common variable, 8, with autoimmunity LRBA
469 Albinism, oculocutaneous, type VII LRMDA
470 Osteoporosis-pseudoglioma syndrome LRP5
471 Leigh syndrome, French-Canadian type LRPPR C
472 Deafness, autosomal recessive 63 LRTOM T
473 Glaucoma 3, primary congenital, D LTBP2
474 Retinitis pigmentosa 62 MAK
475 Immunodeficiency 12 MALT1
476 Mannosidosis, alpha-, types I and II MAN2B 1
477 Deafness, autosomal recessive 49 MARVE LD2
478 3MC syndrome 1 MASP1
479 Osteogenesis imperfecta, type XIX MBTPS 2
480 Glucocorticoid deficiency, due to ACTH unresponsiveness MC2R
481 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1
482 3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2
483 Methylmalonyl-CoA epimerase deficiency MCEE
484 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development MCM3A P
485 Mucolipidosis IV MCOLN 1
486 Microcephaly 1, primary, autosomal recessive MCPH1
487 Familial Mediterranean fever, AD MEFV
488 Familial Mediterranean fever, AR MEFV
489 Retinitis pigmentosa 38 MERTK
490 Mental retardation, autosomal recessive 44 METTL 23
491 Ceroid lipofuscinosis, neuronal, 7 MFSD8
492 Mitochondrial DNA depletion syndrome 11 MGME 1
493 Keutel syndrome MGP
494 Opitz GBBB syndrome, type I MID1
495 Combined oxidative phosphorylation deficiency 31 MIPEP
496 McKusick-Kaufman syndrome MKKS
497 Bardet-Biedl syndrome 6 MKKS
498 Joubert syndrome 28 MKS1
499 Meckel syndrome 1 MKS1
500 Bardet-Biedl syndrome 13 MKS1
501 Megalencephalic leukoencephalopathy with subcortical cysts MLC1
502 Methylmalonic aciduria, vitamin B12-responsive MMAA
503 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type MMAB
504 Methylmalonic aciduria and homocystinuria, cblC type MMAC HC
505 Methylmalonic aciduria and homocystinuria, cblD type MMAD HC
506 Multicentric osteolysis, nodulosis, and arthropathy MMP2
507 Methylmalonic aciduria, mut(0) type MMUT
508 Molybdenum cofactor deficiency A MOCS1
509 Molybdenum cofactor deficiency B MOCS2
510 Hydrocephalus, congenital, 2, with or without brain or eye anomalies MPDZ
511 Trichothiodystrophy 4, nonphotosensitive MPLKI P
512 Charcot-Marie-Tooth disease, axonal, type 2EE MPV17
513 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MPV17
514 Glucocorticoid deficiency 2 MRAP
515 Homocystinuria due to MTHFR deficiency MTHFR
516 Myotubular myopathy, X-linked MTM1
517 Charcot-Marie-Tooth disease, type 4B1 MTMR2
518 Homocystinuria-megaloblastic anemia, cblG complementation type MTR
519 Homocystinuria-megaloblastic anemia, cbl E type MTRR
520 Abetalipoproteinemia MTTP
521 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MUSK
522 Fetal akinesia deformation sequence 1 MUSK
523 Deafness, autosomal recessive 3 MYO15 A
524 Deafness, autosomal recessive 30 MYO3A
525 Microvillus inclusion disease MYO5B
526 Deafness, autosomal recessive 37 MYO6
527 Usher syndrome, type 1B MYO7A
528 Deafness, autosomal recessive 2 MYO7A
529 Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGLU
530 N-acetylglutamate synthase deficiency NAGS
531 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN
532 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NBAS
533 Gray platelet syndrome NBEAL 2
534 Nijmegen breakage syndrome NBN
535 Chronic granulomatous disease due to deficiency of NCF-1 NCF1
536 Chronic granulomatous disease due to deficiency of NCF-2 NCF2
537 Lissencephaly 4 (with microcephaly) NDE1
538 Exudative vitreoretinopathy 2, X-linked NDP
539 Norrie disease NDP
540 Charcot-Marie-Tooth disease, type 4D NDRG1
541 Mitochondrial complex I deficiency, nuclear type 1 NDUFS 4
542 Nemaline myopathy 2, autosomal recessive NEB
543 Short-rib thoracic dysplasia 6 with or without polydactyly NEK1
544 Renal-hepatic-pancreatic dysplasia 2 NEK8
545 Lethal congenital contracture syndrome 10 NEK9
546 Sialidosis, type I NEU1
547 Sialidosis, type II NEU1
548 Dyskeratosis congenita, autosomal recessive 2 NHP2
549 Ichthyosis, congenital, autosomal recessive 6 NIPAL4
550 Hydatidiform mole, recurrent, 1 NLRP7
551 Leber congenital amaurosis 9 NMNAT 1
552 Dyskeratosis congenita, autosomal recessive 1 NOP10
553 Niemann-Pick disease, type C1 NPC1
554 Niemann-pick disease, type C2 NPC2
555 Nephronophthisis 1, juvenile NPHP1
556 Senior-Loken syndrome-1 NPHP1
557 Joubert syndrome 4 NPHP1
558 Nephronophthisis 3 NPHP3
559 Meckel syndrome 7 NPHP3
560 Nephronophthisis 4 NPHP4
561 Senior-Loken syndrome 4 NPHP4
562 Nephrotic syndrome, type 1 NPHS1
563 Nephrotic syndrome, type 2 NPHS2
564 Adrenal hypoplasia, congenital NR0B1
565 Mental retardation, autosomal recessive 5 NSUN2
566 Insensitivity to pain, congenital, with anhidrosis NTRK1
567 Striatonigral degeneration, infantile NUP62
568 Gyrate atrophy of choroid and retina with or without ornithinemia OAT
569 3-M syndrome 2 OBSL1
570 Albinism, oculocutaneous, type II OCA2
571 Pseudo-TORCH syndrome 1 OCLN
572 Lowe syndrome OCRL
573 Joubert syndrome 10 OFD1
574 Behr syndrome OPA1
575 3-methylglutaconic aciduria, type III OPA3
576 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance OPHN1
577 Osteopetrosis, autosomal recessive 5 OSTM1
578 Ornithine transcarbamylase deficiency OTC
579 Deafness, autosomal recessive 22 OTOA
580 Deafness, autosomal recessive 9 OTOF
581 Deafness, autosomal recessive 84B OTOGL
582 Osteogenesis imperfecta, type VIII P3H1
583 Phenylketonuria PAH
584 Mental retardation, X-linked 30/47 PAK3
585 Fanconi anemia, complementation group N PALB2
586 Neurodegeneration with brain iron accumulation 1 PANK2
587 Parkinson disease 7, autosomal recessive early-onset PARK7
588 Waardenburg syndrome, type 3 PAX3
589 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia PAX8
590 Pyruvate carboxylase deficiency PC
591 Propionicacidemia PCCA
592 Propionicacidemia PCCB
593 Diencephalic-mesencephalic junction dysplasia syndrome 1 PCDH1 2
594 Usher syndrome, type 1D/F digenic PCDH1 5
595 Usher syndrome, type 1F PCDH1 5
596 Deafness, autosomal recessive 23 PCDH1 5
597 Microcephalic osteodysplastic primordial dwarfism, type II PCNT
598 Retinitis pigmentosa 43 PDE6A
599 Retinitis pigmentosa-40 PDE6B
600 Retinitis pigmentosa 57 PDE6G
601 Lacticacidemia due to PDX1 deficiency PDHX
602 Coenzyme Q10 deficiency, primary, 2 PDSS1
603 Coenzyme Q10 deficiency, primary, 3 PDSS2
604 Usher syndrome, type IIC, GPR98/PDZD7 digenic PDZD7
605 Deafness, autosomal recessive 57 PDZD7
606 Prolidase deficiency PEPD
607 Peroxisome biogenesis disorder 1A (Zellweger) PEX1
608 Peroxisome biogenesis disorder 6A (Zellweger) PEX10
609 Peroxisome biogenesis disorder 3A (Zellweger) PEX12
610 Peroxisome biogenesis disorder 8A (Zellweger) PEX16
611 Peroxisome biogenesis disorder 8B PEX16
612 Peroxisome biogenesis disorder 12A (Zellweger) PEX19
613 Peroxisome biogenesis disorder 5A (Zellweger) PEX2
614 Peroxisome biogenesis disorder 7A (Zellweger) PEX26
615 Peroxisome biogenesis disorder 2A (Zellweger) PEX5
616 Rhizomelic chondrodysplasia punctata, type 5 PEX5
617 Peroxisome biogenesis disorder 4A (Zellweger) PEX6
618 Rhizomelic chondrodysplasia punctata, type 1 PEX7
619 Borjeson-Forssman-Lehmann syndrome PHF6
620 Glycogen storage disease IXc PHKG2
621 Refsum disease PHYH
622 Arthrogryposis, distal, with impaired proprioception and touch PIEZO2
623 Hyperphosphatasia with mental retardation syndrome 1 PIGV
624 Parkinson disease 6, early onset PINK1
625 Deafness, autosomal recessive 59 PJVK
626 Polycystic kidney disease 4, with or without hepatic disease PKHD1
627 Pyruvate kinase deficiency PKLR
628 Parkinson disease 14, autosomal recessive PLA2G 6
629 Neurodegeneration with brain iron accumulation 2B PLA2G 6
630 Nephrotic syndrome, type 3 PLCE1
631 Epidermolysis bullosa simplex with pyloric atresia PLEC
632 Epidermolysis bullosa simplex with muscular dystrophy PLEC
633 Muscular dystrophy, limb-girdle, autosomal recessive 17 PLEC
634 Charcot-Marie-Tooth disease, recessive intermediate C PLEKH G5
635 Plasminogen deficiency, type I PLG
636 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 PLOD1
637 Pelizaeus-Merzbacher disease PLP1
638 Spastic paraplegia 2, X-linked PLP1
639 Congenital disorder of glycosylation, type Ia PMM2
640 Spinocerebellar ataxia, autosomal recessive 2 PMPCA
641 Immunodeficiency due to purine nucleoside phosphorylase deficiency PNP
642 Ichthyosis, congenital, autosomal recessive 10 PNPLA 1
643 Spastic paraplegia 39, autosomal recessive PNPLA 6
644 Oliver-McFarlane syndrome PNPLA 6
645 Mitochondrial DNA depletion syndrome 4A (Alpers type) POLG
646 Mitochondrial DNA depletion syndrome 4B (MNGIE type) POLG
647 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3 A
648 Wiedemann-Rautenstrauch syndrome POLR3 A
649 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 POMG NT1
650 Retinitis pigmentosa 76 POMG NT1
651 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 POMT1
652 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 POMT2
653 Pituitary hormone deficiency, combined, 1 POU1F 1
654 Deafness, X-linked 2 POU3F 4
655 Osteogenesis imperfecta, type IX PPIB
656 Ceroid lipofuscinosis, neuronal, 1 PPT1
657 Renpenning syndrome PQBP1
658 Retinitis pigmentosa 36 PRCD
659 Methylmalonic aciduria and homocystinuria, cblC type, digenic PRDX1
660 Hemophagocytic lymphohistiocytosis, familial, 2 PRF1
661 Epilepsy, progressive myoclonic 1B PRICKL E1
662 Parkinson disease, juvenile, type 2 PRKN
663 Thrombophilia due to protein C deficiency, autosomal recessive PROC
664 Retinitis pigmentosa 41 PROM1
665 Pituitary hormone deficiency, combined, 2 PROP1
666 Thrombophilia due to protein S deficiency, autosomal recessive PROS1
667 Retinitis punctata albescens PRPH2
668 Retinitis pigmentosa 7 and digenic form PRPH2
669 Deafness, X-linked 1 PRPS1
670 Charcot-Marie-Tooth disease, X-linked recessive, 5 PRPS1
671 Mental retardation, autosomal recessive 1 PRSS1 2
672 Charcot-Marie-Tooth disease, type 4F PRX
673 Gaucher disease, atypical PSAP
674 Krabbe disease, atypical PSAP
675 Metachromatic leukodystrophy due to SAP-b deficiency PSAP
676 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease PTRH2
677 Hyperphenylalaninemia, BH4-deficient, A PTS
678 Cutis laxa, autosomal recessive, type IIB PYCR1
679 Cutis laxa, autosomal recessive, type IIIB PYCR1
680 Leukodystrophy, hypomyelinating, 10 PYCR2
681 McArdle disease PYGM
682 Hyperphenylalaninemia, BH4-deficient, C QDPR
683 Fanconi anemia, complementation group O RAD51 C
684 Severe combined immunodeficiency, B cell-negative RAG1
685 Omenn syndrome RAG1
686 Severe combined immunodeficiency, B cell-negative RAG2
687 Omenn syndrome RAG2
688 Jawad syndrome RBBP8
689 Seckel syndrome 2 RBBP8
690 Leber congenital amaurosis 13 RDH12
691 Deafness, autosomal recessive 24 RDX
692 Congenital disorder of glycosylation, type In RFT1
693 Retinitis pigmentosa 44 RGR
694 Retinitis pigmentosa 4, autosomal dominant or recessive RHO
695 Popliteal pterygium syndrome, Bartsocas-Papas type RIPK4
696 Cartilage-hair hypoplasia RMRP
697 Microcephalic osteodysplastic primordial dwarfism, type I RNU4A TAC
698 Gaze palsy, familial horizontal, with progressive scoliosis, 1 ROBO3
699 Kohlschutter-Tonz syndrome ROGDI
700 Retinitis pigmentosa 1 RP1
701 Retinitis pigmentosa 2 RP2
702 Leber congenital amaurosis 2 RPE65
703 Retinitis pigmentosa 20 RPE65
704 Retinitis pigmentosa 3 RPGR
705 Cone-rod dystrophy 13 RPGRI P1
706 Leber congenital amaurosis 6 RPGRI P1
707 Joubert syndrome 7 RPGRI P1L
708 Meckel syndrome 5 RPGRI P1L
709 Retinoschisis RS1
710 Dyskeratosis congenita, autosomal recessive 5 RTEL1
711 Microcephaly, short stature, and polymicrogyria with seizures RTTN
712 Spastic ataxia, Charlevoix-Saguenay type SACS
713 Retinitis pigmentosa 47 SAG
714 Shwachman-Diamond syndrome SBDS
715 Charcot-Marie-Tooth disease, type 4B3 SBF1
716 Charcot-Marie-Tooth disease, type 4B2 SBF2
717 Insensitivity to pain, congenital SCN9A
718 Pseudohypoaldosteronism, type I SCNN1 A
719 Pseudohypoaldosteronism, type I SCNN1 B
720 Pseudohypoaldosteronism, type I SCNN1 G
721 Ichthyosis, congenital, autosomal recessive 13 SDR9C 7
722 Dyserythropoietic anemia, congenital, type II SEC23 B
723 Retinitis pigmentosa 35 SEMA4 A
724 Cone-rod dystrophy 10 SEMA4 A
725 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC 1
726 Alpha-1-antitrypsin deficiency SERPI NA1
727 Peeling skin syndrome 5 SERPI NB8
728 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX
729 Surfactant metabolism dysfunction, pulmonary, 1 SFTPB
730 Muscular dystrophy, limb-girdle, autosomal recessive 3 SGCA
731 Muscular dystrophy, limb-girdle, autosomal recessive 4 SGCB
732 Muscular dystrophy, limb-girdle, autosomal recessive 6 SGCD
733 Muscular dystrophy, limb-girdle, autosomal recessive 5 SGCG
734 Mucopolysaccharidosis type IIIA (Sanfilippo A) SGSH
735 Lymphoproliferative syndrome, X-linked, 1 SH2D1 A
736 Charcot-Marie-Tooth disease, type 4C SH3TC 2
737 Marinesco-Sjogren syndrome SIL1
738 Bartter syndrome, type 1 SLC12 A1
739 Gitelman syndrome SLC12 A3
740 Agenesis of the corpus callosum with peripheral neuropathy SLC12 A6
741 Thiamine-responsive megaloblastic anemia syndrome SLC19 A2
742 Hypouricemia, renal SLC22 A12
743 Carnitine deficiency, systemic primary SLC22 A5
744 Albinism, oculocutaneous, type VI SLC24 A5
745 Citrullinemia, adult-onset type II SLC25 A13
746 Citrullinemia, type II, neonatal-onset SLC25 A13
747 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25 A15
748 Carnitine-acylcarnitine translocase deficiency SLC25 A20
749 Epileptic encephalopathy, early infantile, 3 SLC25 A22
750 Diastrophic dysplasia SLC26 A2
751 Diarrhea 1, secretory chloride, congenital SLC26 A3
752 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct SLC26 A4
753 GLUT1 deficiency syndrome 1, infantile onset, severe SLC2A 1
754 Arterial tortuosity syndrome SLC2A 10
755 Fanconi-Bickel syndrome SLC2A 2
756 Hypophosphatemic rickets with hypercalciuria SLC34 A3
757 Congenital disorder of glycosylation, type IIn SLC39 A8
758 Albinism, oculocutaneous, type IV SLC45 A2
759 Renal tubular acidosis, distal, AR SLC4A 1
760 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A 4
761 Brown-Vialetto-Van Laere syndrome 2 SLC52 A2
762 Brown-Vialetto-Van Laere syndrome 1 SLC52 A3
763 Glucose/galactose malabsorption SLC5A 1
764 Lysinuric protein intolerance SLC7A 7
765 Deafness and myopia SLITRK 6
766 Fanconi anemia, complementation group P SLX4
767 Schimke immunoosseous dysplasia SMARC AL1
768 Heart and brain malformation syndrome SMG9
769 Spinal muscular atrophy-1 SMN1
770 Spinal muscular atrophy-3 SMN1
771 Spinal muscular atrophy-2 SMN1
772 Spinal muscular atrophy-4 SMN1
773 Microphthalmia with limb anomalies SMOC1
774 Niemann-Pick disease, type A SMPD1
775 Niemann-Pick disease, type B SMPD1
776 Waardenburg syndrome, type 2D SNAI2
777 Osteopetrosis, autosomal recessive 8 SNX10
778 Amyotrophic lateral sclerosis 1 SOD1
779 Hepatic venoocclusive disease with immunodeficiency SP110
780 Amyotrophic lateral sclerosis 5, juvenile SPG11
781 Spastic paraplegia 11, autosomal recessive SPG11
782 Charcot-Marie-Tooth disease, axonal, type 2X SPG11
783 Spastic paraplegia 7, autosomal recessive SPG7
784 Netherton syndrome SPINK5
785 Diarrhea 3, secretory sodium, congenital, syndromic SPINT2
786 Spherocytosis, type 3 SPTA1
787 Ichthyosis, congenital, autosomal recessive 11 ST14
788 Microcephaly 7, primary, autosomal recessive STIL
789 Deafness, autosomal recessive 16 STRC
790 Hemophagocytic lymphohistiocytosis, familial, 4 STX11
791 Hemophagocytic lymphohistiocytosis, familial, 5 STXBP 2
792 Multiple sulfatase deficiency SUMF1
793 Leigh syndrome, due to COX IV deficiency SURF1
794 Charcot-Marie-Tooth disease, type 4K SURF1
795 Epileptic encephalopathy, early infantile, 18 SZT2
796 Corneal dystrophy, gelatinous drop-like TACST D2
797 Dystonia-Parkinsonism, X-linked TAF1
798 Bare lymphocyte syndrome, type I TAP1
799 Tyrosinemia, type II TAT
800 Deafness , autosomal recessive 86 TBC1D 24
801 Myoclonic epilepsy, infantile, familial TBC1D 24
802 Epileptic encephalopathy, early infantile, 16 TBC1D 24
803 DOORS syndrome TBC1D 24
804 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp TBC1D 24
805 Muscular dystrophy, limb-girdle, autosomal recessive 7 TCAP
806 Cardiomyopathy, hypertrophic, 25 TCAP
807 Osteopetrosis, autosomal recessive 1 TCIRG 1
808 Transcobalamin II deficiency TCN2
809 Joubert syndrome 13 TCTN1
810 Joubert syndrome 24 TCTN2
811 Joubert syndrome 18 TCTN3
812 Ventricular tachycardia, catecholaminergic polymorphic, 3 TECRL
813 Deafness, autosomal recessive 21 TECTA
814 Ichthyosis, congenital, autosomal recessive 1 TGM1
815 Segawa syndrome, recessive TH
816 Cholestasis, progressive familial intrahepatic 4 TJP2
817 Deafness, autosomal recessive 7 TMC1
818 Joubert syndrome 16 TMEM1 38
819 Joubert syndrome 2 TMEM2 16
820 Meckel syndrome 2 TMEM2 16
821 Joubert syndrome 20 TMEM2 31
822 Meckel syndrome 11 TMEM2 31
823 Nephronophthisis 11 TMEM6 7
824 Joubert syndrome 6 TMEM6 7
825 Meckel syndrome 3 TMEM6
826 COACH syndrome TMEM6 7
827 Deafness, autosomal recessive 6 TMIE
828 Deafness, autosomal recessive 8/10 TMPRS S3
829 Paget disease of bone 5, juvenile-onset TNFRS F11B
830 Immunodeficiency, common variable, 2 TNFRS F13B
831 Osteopetrosis, autosomal recessive 2 TNFSF 11
832 Mental retardation, autosomal recessive 54 TNIK
833 Nemaline myopathy 5, Amish type TNNT1
834 Ceroid lipofuscinosis, neuronal, 2 TPP1
835 Deafness, autosomal recessive 79 TPRN
836 Muscular dystrophy, limb-girdle, autosomal recessive 18 TRAPP C11
837 Muscular dystrophy, limb-girdle, autosomal recessive 8 TRIM32
838 Mulibrey nanism TRIM37
839 Deafness, autosomal recessive 28 TRIOB P
840 Hypothyroidism, congenital, nongoitrous 4 TSHB
841 Hypothyroidism, congenital, nongoitrous, 1 TSHR
842 Trichohepatoenteric syndrome 1 TTC37
843 Gastrointestinal defects and immunodeficiency syndrome TTC7A
844 Bardet-Biedl syndrome 8 TTC8
845 Cone-rod dystrophy 19 TTLL5
846 Muscular dystrophy, limb-girdle, autosomal recessive 10 TTN
847 Ataxia with isolated vitamin E deficiency TTPA
848 Microcephaly and chorioretinopathy, autosomal recessive, 1 TUBGC P6
849 Retinitis pigmentosa 14 TULP1
850 Leber congenital amaurosis 15 TULP1
851 Albinism, oculocutaneous, type IA TYR
852 Albinism, oculocutaneous, type IB TYR
853 Albinism, oculocutaneous, type III TYRP1
854 Angelman syndrome UBE3A
855 Johanson-Blizzard syndrome UBR1
856 Crigler-Najjar syndrome, type I UGT1A 1
857 Crigler-Najjar syndrome, type II UGT1A 1
858 Hemophagocytic lymphohistiocytosis, familial, 3 UNC13 D
859 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 UNC80
860 Mitochondrial complex III deficiency, nuclear type 7 UQCC2
861 Porphyria, congenital erythropoietic UROS
862 Usher syndrome, type 1C USH1C
863 Deafness, autosomal recessive 18A USH1C
864 Usher syndrome, type 1G USH1G
865 Usher syndrome, type 2A USH2A
866 Retinitis pigmentosa 39 USH2A
867 Myasthenic syndrome, congenital, 25 VAMP1
868 Neutropenia, severe congenital, 5, autosomal recessive VPS45
869 von Willibrand disease, type 3 VWF
870 von Willebrand disease, types 2A, 2B, 2M, and 2N VWF
871 Neutropenia, severe congenital, X-linked WAS
872 Wiskott-Aldrich syndrome WAS
873 Thrombocytopenia, X-linked WAS
874 Ritscher-Schinzel syndrome 1 WASH C5
875 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations WDR62
876 Galloway-Mowat syndrome 1 WDR73
877 Wolfram syndrome 1 WFS1
878 Deafness, autosomal recessive 31 WHRN
879 Usher syndrome, type 2D WHRN
880 Werner syndrome WRN
881 Spinocerebellar ataxia, autosomal recessive 12 WWOX
882 Epileptic encephalopathy, early infantile, 28 WWOX
883 Xanthinuria, type I XDH
884 Xeroderma pigmentosum, group A XPA
885 Xeroderma pigmentosum, group C XPC
886 Myopathy, lactic acidosis, and sideroblastic anemia 2 YARS2
887 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 ZBTB2 4
888 Heterotaxy, visceral, 1, X-linked ZIC3
889 VACTERL association, X-linked ZIC3

Please leave your enquiry here, we will reply as soon as possible.


*only support gif, jpeg, jpg, png, pdf
Switch To Desktop Version