Global Variome shared LOVD

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Phenotype #0000036620 Individual ID 00049846 Associated disease PENTT Phenotype details see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, microphthalmia, corneal abnormaltiy, , thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers/toes, osteopenia, thin bones, scoliosis, thin calvarium, normal intelligence, bilateral sensorineural hearing loss, mega cisterna magna, hypothyroid, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-13 11:03:34 +02:00 (CEST) Date last edited N/A

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