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66 Possible Causes for Associated with Untreated Phenylketonuria

  • Autistic Disorder

    Patients with untreated phenylketonuria are consistently reported to have distinct autistic behaviors. 58 With current newborn screening practices in place in the United States[doi.org] […] with well-known genetic or genomic disorders (including fragile X syndrome, neurofibromatosis, tuberous sclerosis, untreated phenylketonuria, and Angelman, Cornelia de Lange[doi.org] The association of certain metabolic disorders with autism has been known for some time.[doi.org]

  • Tetralogy of Fallot

    The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid.[ncbi.nlm.nih.gov] Etiology The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid.[orpha.net] Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22[ncbi.nlm.nih.gov]

  • Isolated Congenital Sclerocornea

    Possible cataracts and blue eyes in untreated/AR/PAH /#261600 PIERRE ROBIN SEQUENCE/Stickler syndrome/AD, AR, X-linked, isolated/-/%261800 PIGMENT DISPERSION SYNDROME/Glaucoma[eyewiki.org] […] ptosis, hypertelorism/AR/B3GALTL/#261540 PFEIFFER SYNDROME/Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus/AD/FGFR1, FGFR2/#101600 PHACE ASSOCIATION[eyewiki.org] […] microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts/-/-/606519 PHENYLKETONURIA[eyewiki.org]

  • Phenylketonuria

    […] with untreated phenylketonuria.[ncbi.nlm.nih.gov] Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed[ncbi.nlm.nih.gov] ‘Tuberous sclerosis, untreated phenylketonuria and fragile X syndrome are genetic syndromes associated with autism.’[en.oxforddictionaries.com]

  • Alpers Syndrome

    Possible cataracts and blue eyes in untreated AR PAH #261600 PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800 PIGMENT DISPERSION SYNDROME Glaucoma[eyewiki.aao.org] […] ptosis, hypertelorism AR B3GALTL #261540 PFEIFFER SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus AD FGFR1, FGFR2 #101600 PHACE ASSOCIATION[eyewiki.aao.org] […] microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts - - 606519 PHENYLKETONURIA[eyewiki.aao.org]

  • Optic Atrophy-Intellectual Disability Syndrome

    Possible cataracts and blue eyes in untreated AR PAH #261600 PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800 PIGMENT DISPERSION SYNDROME Glaucoma[eyewiki.aao.org] […] ptosis, hypertelorism AR B3GALTL #261540 PFEIFFER SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus AD FGFR1, FGFR2 #101600 PHACE ASSOCIATION[eyewiki.aao.org] […] microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts - - 606519 PHENYLKETONURIA[eyewiki.aao.org]

  • Microcephaly

    phenylketonuria (PKU, a harmful buildup of the amino acid phenylalanine in the blood).[ninds.nih.gov] phenylketonuria Microcephaly can occur alone or in association with other health problems, and may occur from inheritance of an autosomal recessive, or rarely, an autosomal[stanfordchildrens.org] Microcephaly is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes.[ninds.nih.gov]

  • Native American Myopathy

    Possible cataracts and blue eyes in untreated AR PAH #261600 PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800 PIGMENT DISPERSION SYNDROME Glaucoma[eyewiki.aao.org] […] ptosis, hypertelorism AR B3GALTL #261540 PFEIFFER SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus AD FGFR1, FGFR2 #101600 PHACE ASSOCIATION[eyewiki.aao.org] […] microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts - - 606519 PHENYLKETONURIA[eyewiki.aao.org]

  • Acrootoocular Syndrome

    Possible cataracts and blue eyes in untreated/AR/PAH /#261600 PIERRE ROBIN SEQUENCE/Stickler syndrome/AD, AR, X-linked, isolated/-/%261800 PIGMENT DISPERSION SYNDROME/Glaucoma[eyewiki.org] Possible cataracts and blue eyes in untreated AR PAH #261600 PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800 PIGMENT DISPERSION SYNDROME Glaucoma[eyewiki.aao.org] […] ptosis, hypertelorism/AR/B3GALTL/#261540 PFEIFFER SYNDROME/Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus/AD/FGFR1, FGFR2/#101600 PHACE ASSOCIATION[eyewiki.org]

  • Baraitser-Winter Syndrome 1

    Possible cataracts and blue eyes in untreated AR PAH #261600 PIERRE ROBIN SEQUENCE Stickler syndrome AD, AR, X-linked, isolated - %261800 PIGMENT DISPERSION SYNDROME Glaucoma[eyewiki.aao.org] […] ptosis, hypertelorism AR B3GALTL #261540 PFEIFFER SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures, strabismus AD FGFR1, FGFR2 #101600 PHACE ASSOCIATION[eyewiki.aao.org] […] microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts - - 606519 PHENYLKETONURIA[eyewiki.aao.org]

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