Phenotype #0000304721

Individual ID 00412730
Associated disease -
Phenotype details postnatal growth HC (cm): not available; height (cm): not available; birth weight (g): not available; hc (cm): 57.5; height (cm): 164; weight (kg): not available; development: head control (m): 4; sitting (m): 8; standing (m): 11; walking: 2y6m; speaking: 2Y; seizures: no; cognitive impairment: yes; intelligent qotient (IQ): 40; gait disturbance: no; hypotonia: no; behavior: attention deficit hyperactivity disorder: no; self-injury: no; eyes, strabismus: yes; myopia: no; vision impairment: night blindness; retinal degeneration: yes; cataract: none; nystagmus: no; skeletal abnormalities: foot: none; skin involvement: vitiligo ; speech: yes; 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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-03 11:37:35 +02:00 (CEST)
Date last edited N/A

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