autosomal recessive Kenny-Caffey syndrome
An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016516
Kenny-Caffey syndrome
is_a
KCS1
related
Kenny-Caffey syndrome type 1
exact
Kenny-Caffey syndrome, autosomal recessive
exact
Kenny-Caffey syndrome, type 1
related
SPAC22H10.10