Phenotype #0000079460

Individual ID	00101211
Associated disease	?
Diagnosis/Initial	microcephalic primordial dwarfism
Diagnosis/Definite	-
Phenotype details	Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-0.9 to -0.5), OFC 32cm (-1.4), length 50cm (-1.0); 7y11m weight NA, OFC 48cm (-4.1), length 113cm (-2.5). Normal development, Elbow dysplasia (HP:0009811), hypoplastic proximal ulna (HP:0010601), radial head dislocation(HP:0003083), dysplastic thumbs(HP:0009601), Hypopigmented ‘rain drop’ rash(HP:0001053). No haematological abnormalities. FA testing negative (DEB/MMC)
Inheritance	Familial, autosomal recessive
Age/Examination	07y11m (7 years, 11 months)
Age/Diagnosis	-
Age/Onset	00y00m00d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Lynn Boekhoudt
Database submission license	No license selected
Created by	Lynn Boekhoudt
Date created	2017-03-20 18:10:02 +01:00 (CET)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

Global Variome shared LOVD