Phenotype #0000079462

Individual ID	00101213
Associated disease	?
Diagnosis/Initial	microcephalic primordial dwarfism
Diagnosis/Definite	-
Phenotype details	Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-1.2 to -0.7), OFC 50th centile, length 3rd centile; 1y7m weight NA, OFC 46cm (-2.7), length 78cm (-1.6). Normal development, Genu vara(HP:0002970), Hypopigmented ‘rain drop’ rash (HP:0001053). Iron deficiency anemia (HP:0001891), normal FA testing.
Inheritance	Familial, autosomal recessive
Age/Examination	01y07m (1 year, 7 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 18:58:06 +01:00 (CET)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

Global Variome shared LOVD