Phenotype #0000079470

Individual ID	00101221
Associated disease	?
Diagnosis/Initial	microcephalic primordial dwarfism
Diagnosis/Definite	-
Phenotype details	Microcephalic Primordial Dwarfism; birth 36w, weight 2200g (-1.3), OFC 32cm (-0.6), length 44cm (-1.9); 8y4m weight 25.5kg (-0.2), OFC 50.2cm (-2.4), 111cm (-3.3). Normal development, delayed early speech (HP:0002474), Bilateral hypoplasia of radius and thumb, bilateral symphalangism PIPII and IV(HP:0009773), and pronounced brachymesophalangia II and V, left proximal radio-ulnar synostosis(HP:0003938), Neutropenia(HP:0001875), FA testing negative, Mild genital hypoplasia (HP:0003241), Small external ears (HP:0008551)
Inheritance	Familial, autosomal recessive
Age/Examination	08y04m (8 years, 4 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	2017-03-21 00:44:31 +01:00 (CET)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

Global Variome shared LOVD