Phenotype #0000051349

Individual ID 00065242
Associated disease DD
Phenotype details Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -0.34) (-HP:0000252), Low anterior hairline (HP:0000294), Abnormality of the pinna (HP:0000377), Gingival overgrowth (HP:0000212), Micrognathia (HP:0000347), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), Hyporeflexia (HP:0001265), no dystonic posturing (-HP:0002533), Myopia (HP:0000545), Optic atrophy (HP:0000648), Cerebellar atrophy (HP:0001272), mild cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), Vitiligo (HP:0001045),
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 12y (12 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 10:46:48 +02:00 (CEST)
Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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