Global Variome shared LOVD

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Phenotype #0000015263 Individual ID 00016882 Associated disease DBQD2 Phenotype details birth at term, weight 2570g, height 39cm, OFC 33 cm; transient respiratory problems neonatal period, flat face, low nasal bridge, blue sclerae, cleft palate, short neck, narrow thorax, short limbs, coronal clefts neonatal period thereafter mild platyspondyly, shortening tubular bones, absent ossification distal femoral epiphyses at birth; 12y9m weight 23.7kg (-3.5), height 109.5cm (-6), span 111cm, OFC 50.8cm (-2), flat face, prominent eyes, low nasal bridge, pectus carinatum, narrow thorax, hyperlaxity of fingers/knees (genua valga), broad feet, toe clinodactyly, intellectual disability Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y09m (12 years, 9 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-06-05 10:13:39 +02:00 (CEST) Date last edited 2015-12-02 07:16:21 +01:00 (CET)

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