Phenotype #0000258540

Individual ID	00363174
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro Syndrome
Diagnosis/Definite	WARBM1
Phenotype details	intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, decreased myelination of whlte matter; microcornea; microphthalmia; congenital dense central cataracts; small pupils but react to light; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; micropenis, hypospadius; growth hormone deficiency
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-25 12:00:25 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD