Phenotype #0000304716

Individual ID	00412725
Associated disease	-
Phenotype details	postnatal growth HC (cm): 32; height (cm): 46; birth weight (g): 2280; hc (cm): 55; height (cm): 158; weight (kg): 42; facial appearance: prominent nose, narrow chin, high forehead; development: head control (m): not available; sitting (m): 7; standing (m): not available; walking: 1y9m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 50; gait disturbance: yes; hypotonia: yes; behavior: attention deficit hyperactivity disorder: no; self-injury: yes; eyes, strabismus: no; myopia: yes; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: syndactyly; skin involvement: no; magnetic resonance imaging: no
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndromic intellectual disability
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-03 11:37:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD