Create issue ticket

3,604 Possible Causes for Syndromic Mental Retardation

  • Mental Retardation

    In the present study, an improved targeted NGS method was applied to diagnose non‑syndromic mental retardation of unknown cause in one step.[ncbi.nlm.nih.gov] […] or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males.[ojrd.biomedcentral.com] […] anomalies, and mental retardation) is a rare syndrome caused by a contiguous gene deletion in the 11p13-14 region.[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance.[books.google.de] Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA[ncbi.nlm.nih.gov] Acronym MOWS Synonyms Hirschsprung disease-mental retardation syndrome Microcephaly, mental retardation, distinct facial features with or without Hirschsprung disease Keywords[uniprot.org]

  • Coffin-Lowry Syndrome

    Coffin-Lowry syndrome (kŏf′ĭn low′rē) A rare, X-linked genetic syndrome characterized by abnormalities of the head, face, and axial skeleton; mental retardation; short stature[medical-dictionary.thefreedictionary.com] Abstract Coffin-Lowry syndrome (CLS) is a syndromal form of X linked mental retardation, in which some associated facial, hand, and skeletal abnormalities are diagnostic features[ncbi.nlm.nih.gov] Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth retardation, distinct facial phenotype, and progressive[ncbi.nlm.nih.gov]

  • Kabuki Syndrome

    Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater.[ncbi.nlm.nih.gov] BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature,[ncbi.nlm.nih.gov] Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome of unknown etiology.[ncbi.nlm.nih.gov]

  • Dyggve-Melchior-Clausen Syndrome

    Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia.[ncbi.nlm.nih.gov] syndrome (DMC) except for mental retardation.[ncbi.nlm.nih.gov] "Dyggve-Melchior-Clausen Syndrome Without Mental Retardation (Smith-McCort Dysplasia)."[unboundmedicine.com]

  • Woodhouse Sakati Syndrome

    Mental Retardation, and Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome Statements Identifiers Sitelinks Wikipedia[wikidata.org] The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, mental retardation and diabetes mellitus.[eurobuch.com] Primary Hypogonadism, Mental Retardation, and Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome edit English Woodhouse–Sakati[wikidata.org]

  • X-Linked Syndromic Mental Retardation Type Armfield

    […] seizures An important gene associated with Armfield X-Linked Mental Retardation Syndrome is MRXSA (Armfield X-Linked Mental Retardation Syndrome).[malacards.org] Disease Ontology Browser Armfield syndrome ( DOID:0050764 ) Alliance: disease page Synonyms: Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked[informatics.jax.org] Term Name: Armfield syndrome Search Ontology: Synonyms: Armfield X-linked mental retardation syndrome mental retardation syndrome, X-linked, Armfield type MRXSA syndromic[zfin.org]

  • Neuhauser Syndrome

    , motor and mental retardation) syndrome 5 .[scielo.br] Key Words: Neuhauser syndrome – Megalocornea – Mental retardation.[azdoc.site] Synonyms MMR syndrome Neuhauser syndrome Disorder Subdivisions None General Discussion Megalocornea-mental retardation (MMR) syndrome, otherwise known as Neuhauser syndrome[healthmedicinet.com]

  • Chudley-Rozdilsky Syndrome

    , Mental Retardation, Dwarfism, and Renal Impairment Ichthyosis, Spastic Quadriplegia, and Mental Retardation Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin[rgd.mcw.edu] 2 Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism Arthrogryposis, Mental Retardation, and[rgd.mcw.edu] Overview A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.[checkorphan.org]

  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation.[ncbi.nlm.nih.gov] Abstract Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation.[ncbi.nlm.nih.gov] Mental Retardation, Syndromal, With Intermittent Hyperventilation Pitt Hopkins syndrome PITT-HOPKINS SYNDROME; PTHS PTHS edit English Pitt-Hopkins syndrome rare genetic disorder[wikidata.org]

Further symptoms

Similar symptoms