Phenotype #0000051870

Individual ID 00072165
Associated disease GLSP
Phenotype details bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), slurred speech (HP:0001350), general hypotonia (HP:0001290), no epileptic seizures (-HP:?), mild intellectual disability (HP:0001256), poor head control (HP:0002421), delay in motor development (HP:0001270), facial dysmorphy (HP:0001999)
Diagnosis/Initial Gillespie syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite GLSP
Age/Examination -
Age/Diagnosis -
Age/Onset 00y03m
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 16:02:49 +02:00 (CEST)
Date last edited 2025-11-05 19:15:37 +01:00 (CET)

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