Global Variome shared LOVD

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

Phenotype #0000304719 Individual ID 00412728 Associated disease - Phenotype details postnatal growth HC (cm): 34; height (cm): 48; birth weight (g): 2800; hc (cm): 51; height (cm): 160; weight (kg): not available; facial appearance: prominent maxilla, micrognathia; development: head control (m): 8; sitting (m): 13; standing (m): 24; walking: 3y; speaking: 4y; seizures: yes; medication response: yes; cognitive impairment: yes; intelligent qotient (IQ): 30; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; 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 32y (32 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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