Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial 4.0 International 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)

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