Global Variome shared LOVD

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

Phenotype #0000042914 Individual ID 00056284 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details weight 0.4th-2nd Diagnosis/Definite - Age/Examination 12y (12 years) Height-Weight-OFC weight 25th, heigth 9th, OFC 50th Phenotype details Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Rib anomalies Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation 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 14:01:58 +01:00 (CET) Date last edited 2015-12-11 10:50:23 +01:00 (CET)

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