Phenotype #0000155154

Individual ID 00207383
Associated disease MCAHS2;GPIBD4
Phenotype details Psychomotor DD, hypotonia, encepalopathy features (including loss of facial expression and eye pursuit), brain abnormalities (including high symmetry flake signal in bilateral pontine tegmental area and testibrachium), no epilepsy, minor dysmorphism (concave nasal bridge, low-set ears)
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite -
Age/Examination 00y00m29d (29 days)
Age/Diagnosis -
Age/Onset <00y00m29d
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-11-20 18:51:09 +01:00 (CET)
Date last edited N/A

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