A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

Table 1

The clinical symptoms of patients in the present PSACH family.

Patients	Sex	Age (years)	Height (cm)	Onset ages (years)	Gait abnormalities	Hip dysplasia	Knee contractions	Scoliosis	Brachydactyly	Myasthenia
I-1	M	51	155	Unknown	+	+	+	—	—	—
II-1	F	17	145	3	+	+	Unknown	Unknown	—	Unknown
II-2	F	15	140	2	+	+	+	—	—	Unknown
Proband	F	14	140	2	+	+	+	+	—	—
II-4	F	12	135	3	+	+	—	+	—	Unknown

M: male; F: female; +: positive phenotype; -: negative phenotype.