Phenotype #0000278772

Individual ID 00384988
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite PCH2E
Phenotype details see paper; ..., severe global developmental delay (HP:0001263), profound intellectual disability (HP:0001249), microcephaly (HP:0000252), early-onset epilepsy (HP:0001250), progressive spastic quadriplegia, opisthotonos (HP:0001257), irritability (HP:0000737), no optic atrophy (-HP:0001138); abnormal brain morphology (HP:0012443), normal early in life followed by cerebellar, cerebral and corpus callosum atrophy; no cholestasis (-HP:0001396)
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-10-06 16:51:44 +02:00 (CEST)
Date last edited 2021-10-07 10:00:17 +02:00 (CEST)

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