Global Variome shared LOVD

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

Phenotype #0000015022 Individual ID 00016422 Associated disease MALNS;SOTOS2 Inheritance Isolated (sporadic) Diagnosis/Initial - Age/Examination >22y (later than 22 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details postnatal overgrowth, macrocephaly, obesity, speech delay and advanced carpal ossification; craniofacial abnormalities including macrocephaly, long face, slightly down-slanting palpebral fissures, pointed chin Protein - Owner name Eric Pasmant Database submission license No license selected Created by Eric Pasmant Date created 2014-04-16 14:30:19 +02:00 (CEST) Date last edited 2014-04-16 17:24:45 +02:00 (CEST)

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