Phenotype #0000045234

Individual ID	00058643
Associated disease	AAS;MRX16
Phenotype details	impairment in expressive language and speech articulation difficulties, emotional behaviour problems with occasional temper tantrums, short stature (132.5 cm; 5th percentile), moderate rhizomelia of upper and lower limbs, short hands with cutaneous syndactyly of fingers, a surgically corrected right-sided cryptorchidism and over-riding scrotum. Craniofacial findings included relative macrocephaly, frontal bossing, hypertelorism (inner canthal distance 3.5 cm; 497th percentile – outer canthal distance 11 cm; 497th percentile), down slant of palpebral fissures, short nose with anteverted nostrils, wide philtrum and thin upper lip
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Emmelien Aten
Database submission license	No license selected
Created by	Emmelien Aten
Date created	2010-02-16 16:36:14 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD