Phenotype #0000079472

Individual ID 00101224
Associated disease ?
Diagnosis/Initial microcephalic primordial dwarfism
Diagnosis/Definite -
Phenotype details Microcephalic Primordial Dwarfism; birth 30w, weight 800g (-2.8), OFC 17.49cm (-8.5), length NA.

Narrow chest(HP:0000774), absent ulna(HP:0003982) and radius(HP:0003974), hypoplastic femur(HP:0011428) and tibia(HP:0005772), severe talipes(HP:0001883), Intrauterine fetal death, oligohydramnios(HP:0001562), severe cystic hygroma(HP:0000476), dilated ventricles(HP:0002119), severe micrognathia(HP:0000347), low-set ears(HP:0000369), microphthalmia(HP:0000568)
Inheritance Familial, autosomal recessive
Age/Examination 00y00m00d ()
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 12:37:54 +01:00 (CET)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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