Phenotype #0000258197

Individual ID	00362827
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro syndrome
Diagnosis/Definite	WARBM3
Phenotype details	postnatal growth retardation; postnatal microcephaly; profound developmental delay, 4m-truncal hypotonia with poor head control and fisting of his hands, no further developmental milestones achieved; severe axial hypotonia; not walking; 27m-tone was mildly increased in his arms, moderately severe spasticity developed in legs, with normal reflexes and no clonus, 37m-difficulty of arousal, no spontaneous movement or purposeful activity, hypoactive reflexes, and extensor plantar responses bilaterally; 37m-nerve conduction studies markedly abnormal due to severe loss of neurons, suggesting axonal sensorimotor peripheral neuropathy; 37m-frequent daily myoclonic jerks resistant to medication; MRI brain 11y-uneven brain surface with microgyri with microsulci visible frontally, cortex intermediate in thickness (8–10 mm) frontal lobes, with better gyral pattern posteriorly, corpus callosum was hypoplastic, especially posteriorly, with mildly enlarged lateral ventricles, especially in the frontal horns, brainstem was normal, with a small cerebellar vermis, and mildly enlarged cisterna magna; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP’s despite early cataract surgery; micropenis, small retractile testes
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-23 16:48:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

BMP2 (bone morphogenetic protein 2)

Phenotype #0000258197