Phenotype #0000241826

Individual ID	00318042
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	moderate to severe ID, aggressive, speech delay, night blindness, impaired conductance, teeth pointed inward, mild nystagmus. 1 affected: mild ID, epilepsy (from 6 months to 4 years age, not now), aggressive. All affected have night blindness, aggressive. IV:1 and IV:8 mild ID while IV:4 moderate to severe ID. IV:1 has myopia, teeth pointed inward, impaired conductance and mild deaf IV:8 epilepsy (from 6 months to 4 years age, not now), febrile seizures, violent shaking, hyperthermia induced seizures and IV:4 has speech delay, mild nystagmus, myopia, teeth pointed inward, impaired conductance with pain in ears and delayed CMS.
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-11-05 17:52:36 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD