Phenotype #0000305220

Individual ID	00413239
Associated disease	-
Phenotype details	poor suck (HP:0002033); gastroesophageal reflux (HP:0002020); restlessness (HP:0000711); severe motor delay (HP:0001270); speech delay (HP:0000750); infantile axial hypotonia (HP:0009062); spastic tetraplegia (HP:0002510); opisthotonos (HP:0002179); cerebral visual impairment (HP:0100704); vertical nystagmus (HP:0010544); myoclonic seizures (HP:0032794); multifocal polyspike wave complexes (HP:0002392); cerebellar hypoplasia (HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); dilation of lateral and fourth ventricle (HP:0006956, HP:0002198); micrognathia (HP:0000347); high arched palate (HP:0000218); prominent metopic suture (HP:0005487); posterior bulge of the skull (HP:0000929); fisted hands (HP:0001155)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Frederike Leonie Harms
Database submission license
Created by	Frederike Leonie Harms
Date created	2022-07-13 06:32:10 +02:00 (CEST)
Date last edited	2022-07-17 10:18:29 +02:00 (CEST)

Global Variome shared LOVD