Global Variome shared LOVD

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

Phenotype #0000042922 Individual ID 00056300 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details weight 1932 (<10th), heigth 45 (10-50th) Diagnosis/Definite - Age/Examination 10y (10 years) Height-Weight-OFC - Phenotype details Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Synophrys Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Bulbous nose Small ears Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Normal bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys 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 15:19:43 +01:00 (CET) Date last edited 2015-12-13 02:40:52 +01:00 (CET)

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