Global Variome shared LOVD

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Phenotype #0000073557 Individual ID 00065293 Associated disease SEMDFA Phenotype details diagnosed as Progressive Skeletal Dysplasia; 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), no 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) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y06m (7 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Johan den Dunnen Date created 2017-01-06 19:58:44 +01:00 (CET) Date last edited N/A

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