Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304717 Individual ID 00412726 Associated disease - Phenotype details postnatal growth HC (cm): not available; height (cm): not available; birth weight (g): not available; hc (cm): 55; height (cm): 150; weight (kg): 43.5; facial appearance: prominent nose, narrow chin, high forehead; development: head control (m): not available; sitting (m): 8���9; standing (m): not available; walking: 1y9m; speaking: 2y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 67; gait disturbance: ; hypotonia: ; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: no; myopia: yes; vision impairment: no; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: no; magnetic resonance imagi 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 Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-03 11:37:35 +02:00 (CEST) Date last edited N/A

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