Phenotype #0000054215

Individual ID	00074397
Associated disease	MCPH
Phenotype details	Reduced head circumference (HP:0000252), reduced length (HP:?), low weight (HP:0004325), motor development delay (HP:0001270), loss of speech (HP:0002371) and cognition impairment (HP:0100543), severe muscle wasting (HP:0003202), hypertonia (HP:0001276), brisk deep tendon reflex (HP:0006801), down-slanting eyes (HP:0000494), prominent eyelashes (HP:0011231), thin vermilion of the lips (HP:0011339), exotropia (HP:0000577), undescended testicles (HP:?), type 1 diabetes (HP:0100651), gastrostomy tube (HP:0011471), hypomyelination (HP:0003429), White-matter volume markedly diminished (HP:?), thin corpus callosum (HP:0002079), thin brain stem (HP:0002365)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	11y06m (11 years, 6 months)
Age/Diagnosis	-
Age/Onset	00y05m
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-06-27 11:41:19 +02:00 (CEST)
Date last edited	2017-07-18 22:41:08 +02:00 (CEST)