Phenotype #0000079463

Individual ID	00101214
Associated disease	?
Diagnosis/Initial	microcephalic primordial dwarfism
Diagnosis/Definite	-
Phenotype details	Microcephalic Primordial Dwarfism; birth 40w, weight NA, OFC NA, length NA; 2y11m weight 8kg (-5.8), OFC 38cm (-9.6), length 84.5cm (-2.9). Moderate development, hyperactive (HP:0000752) short attention span (HP:0000736), aggressive (HP:0000718), frequent tantrums(HP:0025161).Ridge skull sutures(HP:0001363), Closed anterior fontanelle (HP:0005458), hooked nose(HP:0000444), narrow palpebral fissure(HP:0000581), bilateral epicanthic folds(HP:0000286), cleft palate(HP:0000175), mild hypotonia(HP:0001290).
Inheritance	Familial, autosomal recessive
Age/Examination	02y11m (2 years, 11 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	2017-03-20 20:50:42 +01:00 (CET)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)