Phenotype #0000079467

Individual ID 00101218
Associated disease ?
Diagnosis/Initial microcephalic primordial dwarfism
Diagnosis/Definite -
Phenotype details Microcephalic Primordial Dwarfism; birth NA, weight 2050g (-3.2), OFC 27.5cm (-5.7), length 44cm (-3.3); 15y weight 27.55kg (5.0), OFC 43.5cm (-8.6), length 134.6 cm(-4.4).

Mild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), bushy eyebrows(HP:0000574), growth hormone has increased height (5cm in 18 months).
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 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 00:08:39 +01:00 (CET)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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