Phenotype #0000353166

Individual ID 00468014
Associated disease GLSP
Phenotype details see paper; ..., bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), no postural tremor (-HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), no intellectual disability (HP:0001249), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), short 4th metatarsal (HP:0004689)
Diagnosis/Initial Gillespie syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite GLSP
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-05-12 22:17:07 +02:00 (CEST)
Date last edited 2025-11-06 15:36:47 +01:00 (CET)

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