Global Variome shared LOVD

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

Phenotype #0000042925 Individual ID 00056306 Associated disease WDSTS Inheritance Isolated (sporadic) Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 04y05m (4 years, 5 months) Height-Weight-OFC - Phenotype details Microcephaly Short stature Intrauterine growth retardation Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin Abnormal dentition Tapering fingers 2-3 toe syndactyly Clinodactyly Contracture of the distal interphalangeal joint Slim and muscular build Puffy hand and foot Joint laxity Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Poor sleep 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 15:42:10 +01:00 (CET) Date last edited 2015-12-13 03:03:21 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.