Phenotype #0000051342

Individual ID	00065235
Associated disease	DD
Phenotype details	Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Seizures (HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -1.6) (-HP:0000252), Short upper lip (HP:0000188), Mild hypertelorism (HP:0000316), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Cortical visual impairment (HP:0100704), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), laryngotracheomalacia (HP:0008755), Anal atresia (HP:0002023)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-05-24 09:44:01 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

Global Variome shared LOVD