Phenotype #0000130124

Individual ID 00164989
Associated disease DD
Phenotype details see paper; ..., severe developmental delays with absent speech, cataracts and microphthalmia, facial anomalies with wide-set eyes, broad nasal bridge, down-turned corners of the mouth, pectus deformity and abnormal thumbs
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Anne Slavotinek
Database submission license No license selected
Created by Johan den Dunnen
Date created 2018-07-04 08:38:17 +02:00 (CEST)
Date last edited 2019-04-11 12:09:33 +02:00 (CEST)

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