Phenotype #0000277167

Individual ID	00383382
Associated disease	?
Diagnosis/Initial	global developmental delay, spasticity, seizures, severe microcephaly
Diagnosis/Definite	MCPH19
Phenotype details	birth 36w, no intra-uterine growth retardation or small for age at birth, weight 63rd, height 1st, OFC -8; osteopenia; no fractures; developmental delay; severe intellectual disability, nonverbal; spasticity, non-ambulatory; seizures; MRI brain microcephaly, simplified gyral pattern, thin corpus callosum, delayed myelination
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-09-29 09:23:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD