Phenotype #0000051418

Individual ID	00065303
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), cortical visual impairment (HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), clinodactyly (HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-05-27 13:35:03 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD