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	-
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 15:54:22 +02:00 (CEST)
Date last edited	2017-06-24 21:43:22 +02:00 (CEST)