Global Variome shared LOVD

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Phenotype #0000036618 Individual ID 00049844 Associated disease PENTT Phenotype details see paper; shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, thin calvarium, developmental delay, no hearing loss, posterior fossa cyst, 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 10:37:44 +02:00 (CEST) Date last edited 2015-09-13 11:27:45 +02:00 (CEST)

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