Phenotype #0000079154

Individual ID	00100935
Associated disease	?
Diagnosis/Initial	microcephalic primordial dwarfism
Diagnosis/Definite	-
Phenotype details	Microcephalic Primordial Dwarfism; birth Term, weight NA, OFC NA, length “short”; 12y6m, weight 27.5kg (-2.5), OFC 46.5cm (-5.4), length 130cm (-2.8). Normal development, 5th finger clinodactyly (HP:0004209), 5th toe brachydactyly (HP:0011917) and broad, bilateral hypoplastic patellae with subluxation (HP:0010499). Bilateral oedema on eyelids (HP:0100540), hypoplastic ear lobule (HP:0008551), thin eyebrows (HP:0000535) , broad nasal bridge (HP:0000431), pointed chin (HP:0000307); MRI asymmetric right lateral ventricle (HP:0100960).
Inheritance	Familial, autosomal recessive
Age/Examination	12y06m (12 years, 6 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	2017-03-13 16:03:43 +01:00 (CET)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

Global Variome shared LOVD