Phenotype #0000079461

Individual ID 00101212
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 (-2.1), length 46cm (-2.3); 5y5m weight NA, OFC 46cm (-4.9), length 93cm (-4.0).

Normal development, Elbow dysplasia(HP:0009811), radial head dislocation(HP:0003083), hypoplasia of 1st metacarpal & phalanges(HP:0006070), No haematological abnormalities. FA testing negative
Inheritance Familial, autosomal recessive
Age/Examination 05y05m (5 years, 5 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 18:35:21 +01:00 (CET)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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