Phenotype #0000357438

Individual ID 00472642
Associated disease ALS5
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite CDG2J
Phenotype details severe intellectual disability, spasticity, absent speech, microcephaly, neuromotor delay
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lucia Micale
Date created 2026-02-24 17:21:12 +01:00 (CET)
Date last edited 2026-02-25 17:18:13 +01:00 (CET)

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