Phenotype #0000234851

Individual ID 00309531
Associated disease JBTS
Phenotype details see paper; ..., developmental disability; apnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures; micrognathia; high palate; bifid uvula; bilateral optic nerve hypoplasia; GH deficiency; micropenis; eyelid implants; possible hearing loss; borderline HSM
Diagnosis/Initial Joubert syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite JBTS30
Age/Examination 2y (2 years)
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 2020-08-28 16:43:54 +02:00 (CEST)
Date last edited N/A

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