Alsahan-Harris syndrome (ALHAS) is a severe autosomal recessive prenatal ciliopathy associated with life-limiting congenital anomalies. It has been reported that mutations in TBC1D32 cause this syndrome. TBC1D32 is involved in the development and function of cilia and is expressed in the developing hypothalamus and pituitary gland.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02991 Alsahan-Harris syndrome
