OMIM:621193 |
FICUS syndrome |
OMIM:621234 |
ICHAD syndrome |
OMIMPS:620138 |
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
OMIMPS:155310 |
Myopathy, visceral |
OMIMPS:620235 |
Rhabdomyolysis, susceptibility to |
OMIMPS:253300 |
Spinal muscular atrophy |
OMIMPS:248200 |
Stargardt disease |
OMIM:621235 |
autoimmune disease, multisystem, infantile-onset, 5 |
OMIM:621251 |
cardiomyopathy, dilated, 1qq |
OMIM:621237 |
cardiomyopathy, dilated, 2l |
OMIM:621261 |
cardiomyopathy, dilated, 2m |
OMIM:621252 |
cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome |
OMIM:621195 |
combined oxidative phosphorylation deficiency 60 |
OMIM:621225 |
congenital myopathy 26 |
OMIM:621192 |
craniofaciocardiohepatic syndrome |
OMIM:621250 |
developmental and epileptic encephalopathy 118 |
OMIM:621262 |
diamond-blackfan anemia 22 |
OMIM:621224 |
ectodermal dysplasia 17 with or without limb malformations |
OMIM:621258 |
fanconi anemia, complementation group 10 |
OMIM:621220 |
guillouet-gordon syndrome |
OMIM:621185 |
houge-janssens syndrome 4 |
OMIM:621233 |
immunodysregulation with variable immunodeficiency and autoimmunity |
OMIM:621191 |
leukodystrophy and cerebellar atrophy |
OMIM:621214 |
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy |
OMIM:621212 |
li-takada-miyake syndrome |
OMIM:621196 |
maturity-onset diabetes of the young, type 12 |
OMIM:621199 |
neurodevelopmental disorder with ataxia and brain abnormalities |
OMIM:621263 |
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities |
OMIM:621201 |
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures |
OMIM:621265 |
nil-deshwan neurodevelopmental syndrome |
OMIM:621231 |
oocyte/zygote/embryo maturation arrest 23 |
OMIM:621232 |
oocyte/zygote/embryo maturation arrest 24 |
OMIM:621248 |
pulmonary hypertension, primary, 7 |
OMIM:301149 |
retinal dystrophy, x-linked, gardner-hardcastle type |
OMIM:301148 |
retinitis pigmentosa 99 |
OMIM:621236 |
rhabdomyolysis, susceptibility to, 2 |
OMIM:621260 |
short-rib thoracic dysplasia 22 without polydactyly |
OMIM:621226 |
spastic ataxia 11, autosomal dominant |
OMIM:621209 |
spermatogenic failure 100 |
OMIM:621194 |
spermatogenic failure 99 |
OMIM:621259 |
stargardt disease 5 |