Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000042915 Individual ID 00056286 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details weight 9th Diagnosis/Definite - Age/Examination 08y (8 years) Height-Weight-OFC weight 2nd, heigth 9th, OFC <2nd Phenotype details Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Broad first digits Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Rib anomalies Constipation Feeding difficulties Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation Microcephaly Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Guorui Hu Database submission license No license selected Created by Guorui Hu Date created 2015-12-09 14:10:33 +01:00 (CET) Date last edited 2015-12-11 10:58:22 +01:00 (CET)

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