has characteristic has characteristic has material basis in germline mutation in NALCN hereditary disease congenital contractures of the limbs and face, hypotonia, and developmental delay https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_contractures_of_the_limbs_and_face_hypotonia_and_developmental_delay MONDO:0014556 Orphanet:562528 congenital contractures of the limbs and face, hypotonia, and developmental delay CLIFAHDD syndrome UMLS:C4225398 OMIM:616266 congenital limbs-face contractures-hypotonia-developmental delay syndrome A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. GARD:0016075 EFO:1001868 DOID:0081048 CLIFAHDD MEDGEN:907234 congenital