Phenotype #0000356813

Individual ID 00472004
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., brith 38w; delayed development, delayed motor development; 3y5m-no stand; severe intellectual disability; no speech; no autism; hypotonia; no seizures; motor delay, lower limb muscle weakness, decreased muscle mass bilateral lower limb; mild hypertelorism; atrial septal defect (after receiving operation); left kidney defect, genesis, right vesicoureteral reflux; squint, congenital obstructio ductus nasolacrimalis
Inheritance Isolated (sporadic)
Age/Examination 3y5m (3 years, 5 months)
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 2026-01-05 12:55:15 +01:00 (CET)
Date last edited N/A

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