Phenotype #0000230292

Individual ID	00303208
Associated disease	CATMANS
Phenotype details	short stature (HP:0004322) -2.2 SD; no vertebral anomalies (-HP:0003468); no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), short 3rd fingers and short 2nd metacarpals due to accessory ossicles, clinodactyly of 5th fingers, 2,3-toe syndactyly; no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); renal malformation (HP:0012210), unilateral renal agenesis; congenital heart defect (HP:0001627), secundum atrial septal defect, subaortic ventricular septal defect; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); microcephaly (HP:0000252) -2.3 SD; facial dysmorphism (HP:0001999); joint hypermobility (HP:0001382)
Diagnosis/Initial	Catel-Manzke syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-08 13:43:05 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD