Phenotype #0000051346

Individual ID 00065240
Associated disease DD
Phenotype details Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), no dystonic posturing (-HP:0002533), esotropia (HP:0000565), Hypermetropia (HP:0000540), Astigmatism (HP:0000483), Cerebellar atrophy (HP:0001272), no cerebral atrophy (-HP:0002059), Corpus callosum atrophy (HP:0007371)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-05-24 10:25:34 +02:00 (CEST)
Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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