Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000246573 Individual ID 00328346 Associated disease mitochondrial Diagnosis/Initial - Diagnosis/Definite - Phenotype details Severe intellectual disability, brain imaging abnormalities (pachygyria, polymicrogyria, white matter abnormalities, in retrospect signs of stroke on brain CT), spastic tetraparesis, oral dystonia and dystonia of hands and feet, epilepsy, episodic headaches with nausea and emesis, adverse drug reactions, feeding difficulties, secondary microcephaly in childhood, low body weight, drooling, severe progressive neuromuscular scoliosis and congenital hip dysplasia, dental and gingival abnormalities, facial dysmorphisms Inheritance Maternal, mitochondrial Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Elke de Boer Database submission license No license selected Created by Elke de Boer Date created 2021-01-27 14:11:22 +01:00 (CET) Date last edited 2021-02-21 15:18:38 +01:00 (CET)

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