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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