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3,276 Possible Causes for Attention Deficit Disorder - in Those Who Stop Treatment, Microcephaly, Mousy Odor

  • Classical Phenylketonuria

    Microcephaly or small head size Increased activity in the child or behavioural problems Mental retardation and developmental delays Jerky movements of the legs and arms Tremors[news-medical.net] Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu] This causes symptoms similar to that of regular PKU including microcephaly (small head size) and congenital heart disease. lies Hyperphenylalaninemia Edit Patients have high[drustapbio.wikia.com]

  • Phenylketonuria

    None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis.[ncbi.nlm.nih.gov] Characteristic physical findings include: light hair, eye, and skin pigmentation an eczematous rash hyperactive behavior a musty or mousy odor (due to phenylacetic acid in[epilepsy.com] Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental retardation, heart problems, small head size (microcephaly[genome.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Hyperphenylalaninemia

    BACKGROUND: Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly[ncbi.nlm.nih.gov] ' odor—and treated by restricting dietary phenylalanine, results in tremors, seizures, eczema, hyperactivity, and hypopigmentation and IQ of 50; other hyperphenylalaninemia[medical-dictionary.thefreedictionary.com] Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures.[ncbi.nlm.nih.gov] odor of urine 27.[slideshare.net] Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1.[moldiag.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Autosomal Dominant Mental Retardation Type 21

    Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] In the selected families microcephaly seems to be inherited in an autosomal dominant manner.[jamanetwork.com] […] posterior polar type Age of cataract 3 y 3 y OCT N Alteration of the pigment epithelium ERG N Notion of night-blindness Other ocular features — Decreased visual acuity Leucorea Microcephaly[iovs.arvojournals.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    head, clinodactyly of 5th fingers, p13 9703427 case B phenotypically normal mother had same insertion; insertion of beta-satellite DNA into the short arm Edit 37 18424204[chr7.org] ) body odor Hypopigmentation eczema DX PKU - Phenylketonuria AR - Phenylalanine hydroxylase (failure to convert - tyrosine) Hyperphenylalaninemia - neurologic injury Newborn[quizlet.com] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Wolf-Hirschhorn Syndrome

    This region is also likely to contain a gene for microcephaly.[ncbi.nlm.nih.gov] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] KEYWORDS: DNA replication; Dormant origins; Microcephaly; Nucleosome assembly; Origin licensing[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Phenylalanine Increased

    Abstract Elevated maternal phenylalanine concentrations during pregnancy are teratogenic and may result in growth retardation, microcephaly, significant developmental delays[pediatrics.aappublications.org] Additionally, excessive phenylalanine and its metabolic byproduct, phenylketones, have been attributed to the musty/mousy odor detectable in some untreated individuals.[invitae.com] Untreated individuals have very fair hair, eczema, a mousy odor of the urine and skin, and progressive mental retardation.[medical-dictionary.thefreedictionary.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Partial Monosomy 18q

    : small head How is 18q-Syndrome diagnosed?[ulf.org] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] Other symptoms include a low birth rate, poor muscle tone, mental retardation, small head (microcephaly).[hudsonalpha.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • West Syndrome

    A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia.[ncbi.nlm.nih.gov] The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs.[ncbi.nlm.nih.gov] The clinical symptoms of these patients are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor

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