Global Variome shared LOVD

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

Phenotype #0000238539 Individual ID 00314737 Associated disease ? Diagnosis/Initial popliteal pterygium syndrome (Bartsocas-Papas syndrome) Diagnosis/Definite BPS Phenotype details 3.5m-deceased; alopecia; no ectropion, no lagophthalmos; corneal ulcerations; colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; absent mouth border; no mouth opening; no cleft lip, no cleft palate; no low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; flexion contractures; popliteal pterygia, axillary pterygia, inguinal pterygia; anal stenosis, no atresia, rectal polyps or skin tags; hypoplastic labia major; low set umbilicus; no radius aplasia; no bowing of ulnae; hypoplasia metacarpals, hypoplasia phalanges; dry, scaly skin; asymmetric nipples, wide-set nipples Inheritance Familial, autosomal recessive Age/Examination 3m15d Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-15 09:30:22 +02:00 (CEST) Date last edited N/A

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