Phenotype #0000222963

Individual ID 00289333
Associated disease NEDHCAS
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; no skeletal findings; no low serum alkaline phosphatase
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Onset -
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 2020-03-03 23:15:39 +01:00 (CET)
Date last edited 2020-04-04 12:34:46 +02:00 (CEST)

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