Phenotype #0000267422

Individual ID 00372101
Associated disease -
Phenotype details molar tooth sign; normal kidney; no coloboma; foramen magnum encephalocele; polydactyly; cCleft palate, tongue tumors; tibial and fibular mesomelic dysplasia; shunted hydrocephalus, seizures, interpeduncular heterotopia; small palpebral fissures; poor pupillary response to light, normal optic
disks; micropenis, hearing loss, patent ductus arteriosus
Diagnosis/Initial Joubert symdrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite JBTS34
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-07 07:56:19 +02:00 (CEST)
Date last edited N/A

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