611816.1

Lebanon

Generalized hypotonia; Global developmental delay; Absent distal phalanges; Absent nail of hallux; Abnormal facial shape

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_172362.3:c.1123G>A	1		Temple-Baraitser Syndrome
NM_015690.5:c.2131T>C	1

Authors consider Temple-Baraitser Syndrome and Zimmerman-Laband Syndrome to be a continuous phenotype