Syndromic X-linked mental retardation

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Syndromal X-linked mental retardation (S-XLMR or MRXS) is part of the X-linked mental retardation and includes in contrast to the non-syndromal forms (MRX) the rare group of diseases of the X-linked inherited syndromes with additional abnormalities.

According to the Orphanet database , this group includes:

  • Aldred syndrome , synonym: mental retardation, X-linked - retinitis pigmentosa; Retinitis pigmentosa and intellectual disability in del (X) (p11.3); Retinitis pigmentosa and intellectual disability due to microdeletion Xp11.3; Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
  • Allan-Herndon-Dudley syndrome , synonym: mental retardation, X-linked - muscle hypotonia
  • Arena syndrome , synonym: mental retardation, X-linked - spastic paraplegia with iron deposition; X-linked intellectual disability-spastic paraplegia with iron deposition syndrome , outdated term for Pelizaeus-Merzbacher disease
  • Christianson syndrome , synonyms: mental retardation, X-linked - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy; Mental retardation, X-linked, South African type; Angelman-like Syndrome, X-Linked
  • Mental retardation - epilepsy, X-linked dominant type ,
  • Mental retardation, X-linked - corpus callosum agenesis - spastic tetraparesis
  • Mental retardation, X-linked - cubitus valgus - characteristic facial features
  • Mental retardation, X-linked - hypogammaglobulinaemia - progressive neurological deficits
  • Mental retardation, X-linked - hypotension - facial dysmorphism - aggressive behavior
  • Mental retardation, X-linked - spastic quadriparesis , synonym: Mental retardation with spastic paraplegia
  • Mental retardation, X-linked, syndromic type 7 , synonym: Mental retardation, X-linked, type Ahmad , mutations at p11.3-q22
  • Mental retardation, X-linked, syndromic, Claes-Jensen type , mutations in the KDM5C gene at p11.22
  • Mental retardation, X-linked - premature puberty - obesity
  • Mental retardation, X-linked with isolated axial hormone deficiency
  • Hyde-Forster-McCarthy-Berry syndrome , synonym: mental retardation, X-linked plagiocephaly
  • Johnson syndrome , synonym: mental retardation, X-linked - macrocephaly - macroorchidia
  • Juberg-Marsidi syndrome , synonym: Mental retardation-hypotonic facies syndrome, X-linked; MRXHF1
  • Creatine transporter defect , synonym: mental retardation, X-linked - convulsions - short stature - midface hypoplasia; SLC6A8 deficiency
  • Lindsay Burn Syndrome , synonym: PPM-X; Mental retardation, X-linked - psychosis - macroorchidy
  • Lujan-Fryns syndrome , synonym: X-linked intellectual disability with marfanoid habitus; Mental retardation, X-linked - marfanoid habitus
  • Martin Probst Syndrome , synonym: X-linked hearing loss - mental retardation; Syndrome of X-linked hearing loss with intellectual disability
  • MEHMO syndrome , synonym: mental retardation, X-linked - epileptic seizures - hypogenitalism - microcephaly - obesity
  • Microduplication syndrome Xq27.3-q28 , formerly Vasquez-Hurst-Sotos syndrome, synonym: hypogonadism, X-linked - gynecomastia - mental retardation
  • Monoamine oxidase A deficiency , outdated term: mental retardation, X-linked - abnormalities of the MAOA metabolism
  • OPHN1 syndrome , synonym: mental retardation, X-linked - cerebellar hypoplasia , mutations in the OPHN1 gene at locus q12
  • Partington syndrome , synonym: mental retardation, X-linked - dystonia - dysarthria
  • Pettigrew Syndrome , Synonyms: PGS; Mental retardation, X-linked - Dandy Walker malformation - basal ganglia disease; X Linked Intelligence Disease-Dandy Walker Malformation-Basal Ganglia Disease-Convulsive Syndrome
  • Prieto syndrome , synonym: mental retardation, X-linked - dysmorphism - cerebral atrophy
  • Renpenning syndrome , synonym: mental retardation, X-linked, Renpenning type
  • Stoll-Géraudel-Chauvin syndrome , synonym: mental retardation, X-linked - short stature - hypertelorism
  • Tranebjærg-Svejgaard syndrome , synonym: mental retardation, X-linked - convulsions - psoriasis
  • Trisomy Xq28 , formerly: intellectual disability, X-linked, Lubs type; Lubs Arena Syndrome; X-linked intellectual disability-hypotension-recurrent infection syndrome; MECP2 duplication syndrome
  • Wilson-Turner syndrome , synonym: mental retardation, X-linked - gynecomastia - obesity; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome
  • X-linked mental retardation - cranio-facio-skeletal syndrome , synonym: mental retardation, X-linked - cranio-facio-skeletal syndrome
  • X-linked intellectual disability-acromegaly-hyperactivity syndrome , synonym: mental retardation, X-linked - acromegaly - hyperactivity
  • X-linked intellectual retardation-hypotension-movement disorder syndrome , synonym: X-linked mental retardation-hypotension-movement disorder syndrome
  • X-linked intellectual retardation - cardiomegaly - congestive heart failure syndrome , synonyms: X-linked mental retardation - cardiomegaly - congestive heart failure; Mental retardation, X-linked, syndromic 32 , mutations in the CLIC2 gene at q28
  • X-linked intellectual retardation-short stature-obesity syndrome , synonyms: X-linked mental retardation-short stature-overweight syndrome; Mental retardation, X-linked 12; MRX12; Mental retardation, X-linked 35; MRX35 , mutations in the THOC2 gene at q25
  • X-linked mental retardation - global developmental retardation - facial dysmorphism - sacral caudal remnant , synonym: X-linked mental retardation - global developmental delay - facial dysmorphism - sacral caudal remnant
  • X-linked intellectual retardation-cerebellar hypoplasia-spondyloepiphyseal dysplasia syndrome , synonym: X-linked mental retardation-cerebellar hypoplasia-spondyloepiphyseal dysplasia syndrome
  • X-linked colobomatous micropthalmia-microcephaly -intellectual retardation-short stature syndrome , synonym: X-linked colobomatous micropthalmia-microcephaly-mental retardation-short stature syndrome
  • Young Hughes Syndrome , synonym: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Individual evidence

  1. ↑ Intellectual disability, nonsyndromic, X-linked. In: Orphanet (Rare Disease Database).
  2. ↑ X-linked intellectual disability-spastic paraplegia with iron deposition syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ Mental retardation - epilepsy, X-linked dominant type. In: Orphanet (Rare Disease Database).
  4. ↑ Mental retardation, X-linked - corpus callosum agenesis - spastic tetraparesis. In: Orphanet (Rare Disease Database).
  5. ↑ Mental retardation, X-linked - cubitus valgus - characteristic facial features. In: Orphanet (Rare Disease Database).
  6. ↑ Mental retardation, X-linked - hypogammaglobulinaemia - progressive neurological deficits. In: Orphanet (Rare Disease Database).
  7. ↑ Mental retardation, X-linked - hypotension - facial dysmorphism - aggressive behavior. In: Orphanet (Rare Disease Database).
  8. ↑ Mental retardation, X-linked - spastic quadriparesis. In: Orphanet (Rare Disease Database).
  9. ↑ MENTAL RETARDATION WITH SPASTIC PARAPLEGIA.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ Mental retardation, X-linked, syndromic type 7. In: Orphanet (database for rare diseases).
  11. ↑ retardation, X-linked syndromic 7 Syndromal X-linked mental retardation.  In: Online Mendelian Inheritance in Man . (English)
  12. ^ Mental retardation, X-linked, syndromic, Claes-Jensen type. In: Orphanet (Rare Disease Database).
  13. ^ Mental retardation, X-linked, syndromic, Claes-Jensen type.  In: Online Mendelian Inheritance in Man . (English)
  14. ↑ Mental retardation, X-linked - premature puberty - obesity. In: Orphanet (Rare Disease Database).
  15. ↑ Mental retardation, X-linked with isolated growth hormone deficiency. In: Orphanet (Rare Disease Database).
  16. ↑ Creatine transporter deficiency, X-linked. In: Orphanet (Rare Disease Database).
  17. ^ Vasquez-Hurst-Sotos syndrome. In: Orphanet (Rare Disease Database).
  18. ^ Mental retardation, X-linked abnormalities in MAOA metabolism. In: Orphanet (Rare Disease Database).
  19. ↑ Mental retardation, X-linked - cerebellar hypoplasia. In: Orphanet (Rare Disease Database).
  20. ^ Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.  In: Online Mendelian Inheritance in Man . (English)
  21. ↑ X-linked intellectual disability - cranio-facio-skeletal syndrome. In: Orphanet (Rare Disease Database).
  22. ↑ X-linked intellectual disability-acromegaly-hyperactivity syndrome. In: Orphanet (Rare Disease Database).
  23. ↑ X-linked intellectual retirement-hypotension-movement disorder syndrome. In: Orphanet (Rare Disease Database).
  24. ↑ X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome. In: Orphanet (Rare Disease Database).
  25. ^ Mental retardation, X-linked, syndromic 32.  In: Online Mendelian Inheritance in Man . (English)
  26. ↑ X-linked intellectual disability-short stature-obesity syndrome. In: Orphanet (Rare Disease Database).
  27. ↑ Mental retardation, X-linked 12/35.  In: Online Mendelian Inheritance in Man . (English)
  28. ↑ X-linked intellectual disability-global developmental retardation-facial dysmorphism-sacral caudal remnant. In: Orphanet (Rare Disease Database).
  29. ↑ X-linked intellectual disability-cerebellar hypoplasia-spondyloepiphyseal dysplasia syndrome. In: Orphanet (Rare Disease Database).
  30. ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome. In: Orphanet (Rare Disease Database).

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