Global Variome shared LOVD

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Phenotype #0000051874 Individual ID 00072168 Associated disease GLSP Phenotype details bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), extrapyramidal sign (HP:0002071), no peripheral neuropathy (-HP:0009830), myoclonic seizures (HP:0002123) , poor head control (HP:0002421), no delay in motor development (-HP:0001270), cerebellar atrophy (HP:0001272), marked kyphosis (HP:0002808), left pectoral agenesis (HP:?) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m Phenotype/Onset hypotonia (HP:0001252) with iris hypoplasia (HP:0007676) Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-30 16:42:17 +02:00 (CEST) Date last edited 2017-06-24 21:54:54 +02:00 (CEST)

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