syndromic intellectual disability congenital nervous system disorder intellectual disability, Buenos-Aires type https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type https://www.malacards.org/card/mutchinick_syndrome Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. OMIM:249630 SCTID:725906006 intellectual deficit Buenos-Aires type intellectual disability Buenos Aires type mental retardation Buenos Aires type MEDGEN:167102 MESH:C563095 mental retardation, Buenos Aires type MONDO:0009584 Orphanet:3079 Mutchinick syndrome GARD:0003485 UMLS:C0796080 multiple congenital anomalies/dysmorphic syndrome-intellectual disability