Phenotype #0000304722

Individual ID	00412731
Associated disease	-
Phenotype details	postnatal growth HC (cm): 34; height (cm): 49; birth weight (g): 3000; hc (cm): 55; height (cm): 145; weight (kg): 40; development: head control (m): 5; sitting (m): 10; standing (m): 12; walking: 1y6m; speaking: 18m; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 45; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: yes; magnetic resonance imaging: no
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndromic intellectual disability
Age/Examination	12y (12 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