syndromic intellectual disability Temple-Baraitser syndrome https://www.malacards.org/card/temple_baraitser_syndrome MEDGEN:395636 severe intellectual disability and absent nails of hallux and pollex MONDO:0012735 TMBTS severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome Orphanet:420561 severe mental retardation and absent nails of hallux and pollex A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. mental retardation, severe, and absent nails of hallux and pollex OMIM:611816 GARD:0009441 MESH:C567516 Temple-Baraitser syndrome UMLS:C2678486 multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete syndromic nail anomaly KCNH1 associated disorder