Phenotype #0000223743

Individual ID 00296268
Associated disease NEDHCAS
Diagnosis/Initial glycosylphosphatidylinositol biosynthesis defect
Diagnosis/Definite -
Phenotype details hypotonia; developmental disability and/or intellectual disability; -; movement disorder; no epilepsy/no seizures; dysmorphisms; no ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase
Inheritance Familial, autosomal recessive
Age/Examination -
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 2020-04-04 16:09:09 +02:00 (CEST)
Date last edited N/A

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