Phenotype #0000066759

Individual ID	00087232
Associated disease	MEOAL;MMDS8
Phenotype details	see paper; ..., congenital myopathy, ataxia, skeletal abnormalities, Cesarean section due tonon-reassuring fetal status, slight neonatal asphyxia (Apgar score 5/7), intact in first months after birth; severe growth delay, severe motor delay; severe growth impairment (<3rd percentile); no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pgmentary retinopathy, papillary pallor; triangular face, sunken eyes, chest asymmetry; raised CK (1200U/L); muscle biopsy myopathic; MRI global cerebellar hypotrophy, enlarged cisterna magna, hyperintense signals in the supra-tentorial periventricular and posterior white matter
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMYAT
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	<00y09m
Phenotype/Onset	-
Protein	-
Owner name	Daniele Ghezzi
Database submission license
Created by	Daniele Ghezzi
Date created	2016-11-16 14:47:26 +01:00 (CET)
Date last edited	2021-05-28 23:56:23 +02:00 (CEST)

Global Variome shared LOVD