Phenotype #0000079468

Individual ID 00101219
Associated disease ?
Diagnosis/Initial microcephalic primordial dwarfism
Diagnosis/Definite -
Phenotype details Microcephalic Primordial Dwarfism; birth NA, weight 2430g (-2.4), OFC 29cm(-4.9), length 43cm (-4.0); 11y weight 16.85kg (-6.2), OFC 41.5cm (-8.2), length 122.5 cm(-3.1).

Mild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), nephrotic syndrome(HP:0000100), growth hormone has increased height (3cm in 5 months)
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
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 00:18:45 +01:00 (CET)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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