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56 Possible Causes for Moderately to Severely Delayed Psychomotor Development, Profound Psychomotor Developmental Delay

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    Gene PIGO gene, 9p13.3 (OMIM gene/locus number #614730 ) Phenotype Moderately to severely delayed psychomotor development, mental retardation, various neurologic abnormalities[iofbonehealth.org] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech , psychomotor delay, and postnatal microcephaly .[pesquisa.bvsalud.org] psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017 ).[mendelian.co]

  • Mental Retardation

    Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.[ncbi.nlm.nih.gov]

    Missing: Moderately to Severely Delayed Psychomotor Development
  • Neonatal Adrenoleukodystrophy

    delayed psychomotor development.[ela-asso.com] Moderate to severe hypotonia and liver hypertrophy are also described.[ela-asso.com] It is characterized by seizures at birth, a diffuse encephalopathy , impaired vision and hearing, peripheral neuropathy , facial dimorphism, growth impairment and a severely[ela-asso.com]

    Missing: Profound Psychomotor Developmental Delay
  • Horseshoe Kidney

    Developmental and behavior In older children with trisomy 18 significant developmental delay is always present ranging from a marked to profound degree of psychomotor and[doi.org]

    Missing: Moderately to Severely Delayed Psychomotor Development
  • Mucolipidosis

    People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[ghr.nlm.nih.gov] Psychomotor delay is moderate to severe and usually becomes apparent during the first year of life.[ghr.nlm.nih.gov] Approximately 95 percent of individuals with this condition have the severe form.[ghr.nlm.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • Mucolipidosis Type 1

    People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[centogene.com] Psychomotor delay is moderate to severe and usually becomes apparent during the first year of life.[centogene.com] Approximately 95 percent of individuals with this condition have the severe form.[centogene.com]

    Missing: Profound Psychomotor Developmental Delay
  • Isovaleric Acidemia

    Most patients with chronic intermittent IVA have normal psychomotor development, but some have developmental delay and mild or even severe mental retardation.[e-imd.org] Sixteen of the patients were deceased, and of those still alive, 7 were reported to have mild to moderate mental retardation.[e-imd.org]

    Missing: Profound Psychomotor Developmental Delay
  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    Medical attention was sought for poor feeding, failure to thrive, and hypotonia; neurologic examination revealed moderate to severe psychomotor delay in all cases.[ajnr.org] In one patient (case 3), raised intracranial pressure due to hydrocephalus developed at age 3 months; it is noteworthy that two additional patients from the CT group also[ajnr.org]

    Missing: Profound Psychomotor Developmental Delay
  • Kaufman Oculocerebrofacial Syndrome

    Delayed psychomotor/language development and moderate to severe cognitive deficits are almost invariably observed; hypotonia is common.[jmg.bmj.com]

    Missing: Profound Psychomotor Developmental Delay
  • Pitt-Hopkins Syndrome

    Most affected individuals have delayed development of mental and motor skills (psychomotor delay).[ghr.nlm.nih.gov] People with Pitt-Hopkins syndrome have moderate to severe intellectual disability.[ghr.nlm.nih.gov] Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial[ghr.nlm.nih.gov]

    Missing: Profound Psychomotor Developmental Delay

Further symptoms