Global Variome shared LOVD

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Phenotype #0000042923 Individual ID 00056303 Associated disease WDSTS Inheritance Isolated (sporadic) Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 03y (3 years) Height-Weight-OFC - Phenotype details Intrauterine growth retardation Short stature Normal head circumference Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Ptosis Epicanthus Ectropion of lateral third of lower eyelid Strabismus Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Prominent ear Auricular deformity Cupid’s bow, exaggerated High-arched palate  Abnormal dentition Hypodontia Micrognathia Broad first digits Short fifth finger Clinodactyly Contracture of the distal interphalangeal joint Hypertrichosis Hypertrichosis, back Hypertrichosis, lower limbs Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Cardiac anomaly 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 15:28:32 +01:00 (CET) Date last edited 2015-12-13 02:45:37 +01:00 (CET)

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