has material basis in germline mutation in PACS1 congenital nervous system disorder Schuurs-Hoeijmakers syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/schuurs_hoeijmakers_syndrome intellectual disability, autosomal dominant 17 MEDGEN:767257 OMIM:615009 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome mental retardation, autosomal dominant 17 Schuurs-Hoeijmakers syndrome GARD:0013043 UMLS:C3554343 autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed. SHMS Orphanet:329224 MONDO:0014006 DOID:0070047 PACS1-related syndrome MRD17 NCIT:C150555 autosomal dominant intellectual disability 17 intellectual disability, autosomal dominant type 17 mental retardation, autosomal dominant type 17 multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant non-syndromic intellectual disability autosomal dominant syndromic intellectual disability