| JOUBERT SYNDROME 1 | |
| JBTS1; JOUBERT-BOLTSHAUSER SYNDROME; CEREBELLOPARENCHYMAL DISORDER IV | |
|
213300
OMIM = Online Mendelian Inheritance of Men | |
|
475 | |
| 72 kDa inositol polyphosphate 5-phosphatase | |
| 3.1.3.36 | |
| rare (1:100.000) autosomal recessive mutation in the INPP5E gene | |
| Laboratory findings | no specific laboratory findings (P, S, U ,CSF) () |
| Symptoms | apnea cataract developmental delay dysarthria intellectual disability/intellectual developmental disorder obesity retinal or macular degeneration speech development, delayed, abnormal tachypnea, hyperpnea, dyspnea, hyperventilation ataxia athetosis behavior, abnormal or bizarre, confusion behavior, autism or autistic-like cerebellar atrophy or hypoplasia chorioretinal colobomata cirrhosis or fibrosis of liver cleft eyelid (coloboma) CT, brain, abnormalities [-] early death eye movements, abnormal facial nerve palsy hepatomegaly (large liver) hypotonia liver involvement or dysfunction macroglossia, large/protuding tongue mental retardation MRI, brain, abnormalities [-] multicystic dysplastic kidneys onset, neonatal polydactyly renal cysts seizures short neck strabismus tremor or twitching ultrasound, cranial, abnormalities |