Global Variome shared LOVD

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Phenotype #0000051872 Individual ID 00072166 Associated disease GLSP Phenotype details bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), areflexia of lower limbs (HP:0002522), no epileptic seizures (-HP:?), moderate intellectual disability (HP:0002342), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272) Diagnosis/Initial - Inheritance Familial, autosomal recessive 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 16:13:13 +02:00 (CEST) Date last edited 2017-06-24 21:47:16 +02:00 (CEST)

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