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1,280 Possible Causes for Cognitive Developmental Delay, Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD)

Did you mean: Cognitive Developmental Delay, Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD

  • Chromosome 19q13.11 Deletion Syndrome

    NIH Rare Diseases : 53 Chromosome 19q13.11 deletionsyndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth,[…][malacards.org]

    Missing: Microcephaly (2-3 SD)
  • Amish Lethal Microcephaly

    developmental delays; short heights; and skeletal abnormalities.Lifespan is average in length, though.[owlcation.com] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] Proportional microcephaly occurs when the head circumference is 23 SD below the mean in addition to height and weight being at similar percentiles.[mdpi.com]

    Missing: Cutaneous Syndactyly of Digits
  • Helsmoortel-van der Aa Syndrome

    To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[f1000research.com] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] , behavioral problems, or developmental delay.[eyewiki.aao.org]

    Missing: Cutaneous Syndactyly of Digits
  • Iron Deficiency

    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] Iron deficiency and cognitive function. Annu Rev Nutr 1993;13:521-37. Idjradinata P, Pollitt E.[cdc.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Kaufman Oculocerebrofacial Syndrome

    […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual[rarediseases.oscar.ncsu.edu] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov]

  • Waisman Syndrome

    delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[ng.neurology.org] […] phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language[onlinelibrary.wiley.com] The symptoms are similar: developmental delays gr oss and fine motor skill delays speech and language delays learning and behavior problems hyperextensible joints anxiety[fragilexfiles.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Isolated Agammaglobulinemia

    Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations.[mendelian.co] […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org] Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015 ).[mendelian.co]

  • Early Infantile Epileptic Encephalopathy Type 2

    Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] developmental delay and intellectual disability.[ncbi.nlm.nih.gov] […] and motor development and often result in a devastating permanent global developmental delay and intellectual disability.[jmg.bmj.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Early Infantile Epileptic Encephalopathy Type 17

    […] featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy.[genecards.org] Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype[genecards.org]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Early Infantile Epileptic Encephalopathy Type 6

    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] delay, or cognitive outcome.[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)