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22 Possible Causes for See Also X-Linked and Autosomal Dominant Forms

  • Autosomal Recessive Centronuclear Myopathy

    Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic[…][ncbi.nlm.nih.gov]

  • Diabetes Insipidus

    Autosomal dominant [MIM*125700, *125800, *192340], X-linked [MIM*304800 and *304900], and even autosomal recessive forms [MIM*222000] have been described.[medical-dictionary.thefreedictionary.com] See also: nephrogenic diabetes insipidus. diabetes insipidus (ĭn-sĭp′ĭ-dəs) n.[medical-dictionary.thefreedictionary.com]

  • Thalassemia

    Rare autosomal dominant forms have also been described (dominant beta-thalassemia; see this term).[orpha.net] In rare instances, BT trait is associated with trichothiodystrophy or X-linked thrombocytopenia (see these terms).[orpha.net] […] or less frequently BT-major, HbC - beta-thalassemia, delta-beta-thalassemia and hereditary persistence of fetal Hb with BT resulting in inconstant manifestations of BTI; see[orpha.net]

  • Beta Thalassemia

    Rare autosomal dominant forms have also been described (dominant beta-thalassemia; see this term).[orpha.net] In rare instances, BT trait is associated with trichothiodystrophy or X-linked thrombocytopenia (see these terms).[orpha.net] […] or less frequently BT-major, HbC - beta-thalassemia, delta-beta-thalassemia and hereditary persistence of fetal Hb with BT resulting in inconstant manifestations of BTI; see[orpha.net]

  • Dyskeratosis Congenita

    The pattern of inheritance may be X-linked (Zinsser-Cole-Engleman syndrome), autosomal dominant (dyskeratosis congenita, Scoggins type) or autosomal recessive.[rarediseases.org] These severe forms manifest early in life and are associated with additional clinical features that are usually not present in other forms of dyskeratosis congenita (see also[rarediseases.org]

  • Hoyeraal-Hreidarsson Syndrome

    The pattern of inheritance may be X-linked (Zinsser-Cole-Engleman syndrome), autosomal dominant (dyskeratosis congenita, Scoggins type) or autosomal recessive.[rarediseases.org] These severe forms manifest early in life and are associated with additional clinical features that are usually not present in other forms of dyskeratosis congenita (see also[rarediseases.org]

  • Congenital Hemihypertrophy

    ., 2014 ).An X-linked form of spina bifida has been suggested; see {301410}.[mendelian.co] Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Short stature Scoliosis SOURCES: UMLS SCTID ICD10 OMIM ORPHANET More info about NEURAL TUBE[mendelian.co] See also folate-sensitive neural tube defects ( OMIM ), which are caused by genes involved in folate metabolism.[mendelian.co]

  • Autosomal Dominant Chondrodysplasia Punctata

    X-linked dominant CPD (CPXD), also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD.[humpath.com] The disorder described here is an X-linked dominant disorder with lethality in males.[disorders.eyes.arizona.edu] There are 2 brachytelephalangic forms of CPD: an X-linked recessive form (CPDX1; MIM.302950), caused by mutation in the ARSE gene (300180); a possible autosomal form (BCDP[humpath.com]

  • Chondrodysplasia Punctata

    X-linked dominant CPD (CPXD), also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD.[humpath.com] There are 2 brachytelephalangic forms of CPD: an X-linked recessive form (CPDX1; MIM.302950), caused by mutation in the ARSE gene (300180); a possible autosomal form (BCDP[humpath.com]

  • Knobloch Syndrome Type 1

    Vitreoretinopathies associated with abnormal retinal vascularization are a Gain inherited as autosomal dominant traits for the majority with the one exception being an X-linked[aibolita.com] Snowflake vitreoretinal dystrophy is autosomal dominant.[aibolita.com] form of FEVR.[aibolita.com]

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