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284 Possible Causes for Blue Eyes, Cognitive Developmental Delay

  • Iron Deficiency

    […] more often than usual, or with exercise Headaches Dizziness Palpitations Problems concentrating or thinking As the anemia gets worse, symptoms may include: Brittle nails Blue[medlineplus.gov] The latter include decreased aerobic work performance, hair loss, developmental delay, cognitive and intellectual impairment, adverse pregnancy outcome, and impaired immune[www2.gov.bc.ca] Reversal of developmental delays in iron-deficient anaemic infants treated with iron. Lancet 1993;341(8836):1-4. Lozoff B, Jimenez E, Wolf AW.[cdc.gov]

  • Dravet Syndrome

    Optical filters tinted with a particular color (the procion turquoise blue MGL), have been used in Japan to inhibit flickering hand movements and forced eye closure, but again[icnapedia.org] Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death[ncbi.nlm.nih.gov] delay or cognitive outcome did not differ between both groups.[pediatricneurologybriefs.com]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] […] with Opitz/BBB syndrome are also characterized by developmental delay, ataxia, and midline abnormalities, including hypertelorism, cleft lip/palate, esophagolaryngotracheal[ajnr.org] Screening for OPHN1 mutations in a large cohort of boys with cognitive impairment and vermis hypoplasia led to identification of mutations of this gene in 12%. 42 Patients[ajnr.org]

  • Autosomal Recessive Spastic Paraplegia Type 20

    […] pigmentation 1, blond/brown hair] 227220 605837 Autosomal recessive HERC2 15q13.1 [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220 605837 Autosomal recessive HEXA[mnglabs.com] All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones.[cags.org.ae] […] without mental retardation 613926 611642 Autosomal dominant HERC2 15q13.1 Mental retardation, autosomal recessive 38 615516 605837 Autosomal recessive HERC2 15q13.1 [Skin/hair/eye[mnglabs.com]

  • Weissenbacher-Zweymuller Syndrome

    […] pigmentation 3 blue/green eyes],601800 TYR205.610.99[Skin/hair/eye pigmentation 3 light/dark/freckling skin],601800 TYR205.610.99{Melanoma, cutaneous malignant, susceptibility[qgenomics.com] delays, was followed from birth to eight years.[ncbi.nlm.nih.gov] , oculocutaneous, type IA,203100 TYR205.610.99Albinism, oculocutaneous, type IB,606952 TYR205.610.99Waardenburg syndrome/albinism, digenic,103470 TYR205.610.99[Skin/hair/eye[qgenomics.com]

  • Costello Syndrome

    Nicola, with her blonde-brown hair, gorgeous blue eyes and cheeky smile, is a gorgeous baby.[essentialbaby.com.au] Hypotonia and developmental delay are typical in infancy, and mental retardation can be diagnosed in older patients.[ncbi.nlm.nih.gov] delay)/MR (mental retardation) (100%) Micah test gross motor, fine motor, and cognitively at about a 6y/o.[waltersfamily.wordpress.com]

  • Monosomy 1p36 Syndrome

    Individuals may also have blue irides (eyes).[cureangelman.org.au] Smith-Magenis syndrome (SMS) is characterized by distinctive facial features, developmental delay, cognitive impairment, and behavioral abnormalities.[ncbi.nlm.nih.gov] Affected individuals often exhibit delays in attaining speech and motor skills and in reaching developmental milestones (developmental delays).[rarediseases.org]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    Ataxia, severe eye problems (retinal and macular degeneration ), and early blue-yellow color blindness are typical clinical signs of the disease.[encyclopedia.com]

  • Velocardiofacial Syndrome

    […] coloring under the eyes, small outer ears, thick outer rims of the ear, two different sized ears and nasal sounding speech secondary to cleft palate.[rarediseases.org] Management for infants and preschoolers is usually centered on correcting feeding difficulties and developmental delays, however, in children of school age, treatment is centered[symptoma.com] The association of developmental delays (particularly in language) are very common in patients with 22q11DS.[scielo.conicyt.cl]

  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

    Dysmorphic features are well recognized: microcephaly, prominent mandible, pointed chin, protruding tongue, and fair hair and complexion with blue eyes.[epilepsydiagnosis.org]

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