Phenotype #0000051345

Individual ID 00065238
Associated disease DD
Phenotype details Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -3.3) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 03y (3 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 10:11:31 +02:00 (CEST)
Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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