Phenotype #0000231242

Individual ID 00305393
Associated disease ?
Diagnosis/Initial deafness, cataract
Diagnosis/Definite -
Phenotype details congenital cataract; strabismus; congenital deafness; no round ears; no synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; preauricular fibrochondroma; no thin upper lip; severe developmental delay; autistic features; no peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; no depigmented hairs of lower limbs
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-06-24 16:05:26 +02:00 (CEST)
Date last edited N/A

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