Phenotype #0000034627

Individual ID 00047265
Associated disease WVS
Inheritance Isolated (sporadic)
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Prominent digit pads Camptodactyly Thin, deep-set nails Excessive loose skin Hypoplastic/supernumerary nipples Umbilical hernia Kyphosis euroblastoma, prenatal
Growth overgrowth prenatal
Hypotonia hypotonia
Protein -
Owner name Ana Cohen
Database submission license No license selected
Created by William Gibson
Date created 2013-12-29 07:51:46 +01:00 (CET)
Date last edited N/A

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