Phenotype #0000054217

Individual ID	00074399
Associated disease	MCPH
Phenotype details	no decreased head circumference at birth (-HP:0011451), 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), limited range of motion of the hips and knees (HP:?), hyperextensibility of wrists (HP:0005072) and ankles (HP:?), brisk deep tendon reflex (HP:0006801), up-slanting eyes (HP:0000582), bulbous nasal tip (HP:0000414), protuberant ears (HP:?) with hypoplastic antihelix (HP:0009739), large atrial septal defect (HP:0011643), gastrostomy tube (HP:0011471), white-matter volume markedly diminished (HP:?), very thin corpus callosum (HP:0002079), slightly thin brain stem (HP:0002365)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	09y05m (9 years, 5 months)
Age/Diagnosis	-
Age/Onset	00y00m
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-06-27 12:13:49 +02:00 (CEST)
Date last edited	2017-07-18 22:51:44 +02:00 (CEST)