has material basis in germline mutation in TBCE syndromic intellectual disability syndromic disease autosomal recessive disease hypoparathyroidism-retardation-dysmorphism syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/hypoparathyroidism_retardation_dysmorphism_syndrome DOID:0060348 OMIM:241410 Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. SSS UMLS:C1855840 hypoparathyroidism-intellectual disability-dysmorphism syndrome Sanjad-Sakati syndrome Richardson-Kirk syndrome hypoparathyroidism-short stature-intellectual disability-seizures syndrome HRD GARD:0000411 hypoparathyroidism with short stature, intellectual disability and seizures MONDO:0009426 hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay MESH:C537157 HRD syndrome Orphanet:2323 hypoparathyroidism with short stature, mental retardation, and seizures HRDS hypoparathyroidism with short stature, intellectual disability, and seizures NCIT:C133727 hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay hypoparathyroidism-retardation-dysmorphism syndrome MEDGEN:340984 multiple congenital anomalies/dysmorphic syndrome-intellectual disability primordial dwarfism and slender bone disorder