Phenotype #0000239765

Individual ID	00316020
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 3630 gr (0.7 SD), OFC 32.3 cm (-2.1 SD); 10y-OFC 51.5 cm (-2.1 SD); severe intellectual disability; microcephaly detected during pregnancy; hypotonia at birth; first words-2y, walk-3.5y.; anxiety; attention deficit hyperactivity disorder-like; spasticity lower limbs, with increased deep tendon reflexes and extensor reflex; no ataxia, no dysmetria; distal neuroaxonal impairment; MRI brain corpus callosum hypoplasia, bilateral Perisylvian polymicrogyria; 5y-hypertrophic cardiomyopathy; arched eyebrows, thin upper lip, long philtrum, low-set thumbs, 2-3 toe syndactyly; conjunctival hyperemia, ocular movements: slow saccades, drooling, orofacial dyspraxia
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-11-01 12:39:14 +01:00 (CET)
Date last edited	2020-11-01 13:05:50 +01:00 (CET)

Global Variome shared LOVD