has material basis in germline mutation in HUWE1 intellectual disability, X-linked syndromic, Turner type https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_syndromic_turner_type https://www.malacards.org/card/syndromic_x_linked_intellectual_disability_turner_type An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. Orphanet:85328 DOID:0060811 X-linked intellectual disability, Turner type OMIM:300612 OMIM:309590 UMLS:C2678046 mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type MEDGEN:394425 MESH:C563154 MRXST mental retardation, X-linked, syndromic, Turner type Brooks-Wisniewski-Brown syndrome DOID:0060829 MONDO:0010407 MESH:C567476 mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism OMIM:300706 mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type Brooks-Wisniewski-Brown Syndrome SCTID:725912001 intellectual disability, X-linked syndromic, Turner type GARD:0000081 X-linked mental retardation Brooks type Brooks Wisniewski Brown syndrome Orphanet:3056 mental retardation and macrocephaly syndrome X-linked syndromic intellectual disability