Phenotype #0000304718

Individual ID	00412727
Associated disease	-
Phenotype details	postnatal growth HC (cm): 35; height (cm): 50; birth weight (g): 2500; hc (cm): 52.5; height (cm): 152; weight (kg): not available; facial appearance: prominent maxilla, micrognathia; development: head control (m): 8; sitting (m): 12; standing (m): 24; walking: 3y; speaking: 4y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 31; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: no; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; speech: no; magnetic resonance imaging: no
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndromic intellectual disability
Age/Examination	34y (34 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