has material basis in germline mutation in THOC2 congenital nervous system disorder X-linked intellectual disability-short stature-overweight syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_syndromic_kumar_type https://www.malacards.org/card/x_linked_intellectual_disability_short_stature_overweight_syndrome MRX12 Orphanet:457240 mental retardation, X-linked type 12 MEDGEN:901885 intellectual developmental disorder, X-linked 12, X-linked recessive intellectual disability, X-linked type 12 mental retardation, X-linked 35 mental retardation, X-linked 12 X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. OMIM:300957 MONDO:0010496 DOID:0112056 intellectual disability, X-linked 35 intellectual disability, X-linked 12 GARD:0017800 UMLS:C0796218 multiple congenital anomalies/dysmorphic syndrome-intellectual disability X-linked syndromic intellectual disability