Phenotype #0000034626

Individual ID 00047264
Associated disease WVS
Inheritance Isolated (sporadic)
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Accelerated osseous maturation Hypertonia, peripheral abdominal Hoarse, low-pitched cry Intellectual disability Excessive appetite Seizures (1 GTC febrile-associated around 9 months) Polymicrogyria (asymmetric perisylvian) Poor fine motor coordination Poor balance and gravitational insecurity Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Single transverse palmar crease Thin, deep-set nails Limited elbow and knee extension in early life Excessive loose skin Hypoplastic/supernumerary nipples Scoliosis (mild, resolved) Hypoglycemia at birth, resolved
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 07:44:36 +01:00 (CET)
Date last edited N/A

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