Phenotype #0000051869

Individual ID 00072163
Associated disease GLSP
Phenotype details bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), no abnormal optical coherence tomography (-HP:0030603), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), severe intellectual disability (HP:0010864), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079), ventricular dilatation (HP:0002119), hymeneal imperforation (HP:?)
Diagnosis/Initial Gillespie syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite GLSP
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 15:54:22 +02:00 (CEST)
Date last edited 2025-11-05 19:15:14 +01:00 (CET)

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