Phenotype #0000079471

Individual ID 00101222
Associated disease ?
Diagnosis/Initial microcephalic primordial dwarfism
Diagnosis/Definite -
Phenotype details Microcephalic Primordial Dwarfism; birt 40w, weight 1900g (-3.6), OFC 27.5cm (-6.1), length NA; 14y8m weight 22kg (-5.5), OFC 43.7cm (-7.4), length 132cm (-4.2).

ID, Short 5th metacarpal(HP:0005914), clinodactyly(HP:0004209), 2-3 toe syndactyly(HP:0001233), absent patella (HP:0006443), joint laxity(HP:0001388), Flat nasal bridge(HP:0005280), microtia(HP:0008551) with absent lobules, micrognathia(HP:0000347), pigmented palmar creases(HP:0010490), cryptorchidism(HP:0000028)
Inheritance Familial, autosomal recessive
Age/Examination 14y08m (14 years, 8 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 11:56:06 +01:00 (CET)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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