Phenotype #0000079473

Individual ID	00101225
Associated disease	?
Diagnosis/Initial	microcephalic primordial dwarfism
Diagnosis/Definite	-
Phenotype details	Microcephalic Primordial Dwarfism; birth 20w, weight NA, OFC 9.81cm (-7.8), length NA. Narrow chest(HP:0000774), upper limbs replaced with stubs(HP:0001467) with no clear digits, 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 13:00:42 +01:00 (CET)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

Global Variome shared LOVD