Global Variome shared LOVD

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Phenotype #0000051402 Individual ID 00065289 Associated disease ? Diagnosis/Initial Progressive Skeletal Dysplasia Diagnosis/Definite - Phenotype details Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273) Inheritance Familial, autosomal recessive Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-26 16:34:52 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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