Global Variome shared LOVD

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Phenotype #0000051221 Individual ID 00065116 Associated disease - Phenotype details see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal ERG (-HP:0000512), no abnormal hearing (-HP:0100704), hypertriglyceridemia (HP:0002155), tongue fasciculations (HP:0001308), intermittent hyponatremia (HP:0002902), osteoporosis (HP:0000939), bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), no anteverted nares (-HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 00y11m Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-18 15:14:33 +02:00 (CEST) Date last edited 2016-05-18 17:18:03 +02:00 (CEST)

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