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49 Possible Causes for Psychomotor Development Profoundly Delayed, Urine 2 Ketoglutarate Increased, Wide Space Between the First and Second Toe

  • Amish Lethal Microcephaly

    delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis, alpha-ketoglutaric aciduria and death within the first[medical-dictionary.thefreedictionary.com] Considerations for testing This test may be appropriate for patients with: elevations of 2-ketoglutarate on urine organic acids with or without increased urinary levels of[invitae.com] Get Update Overview Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor[diseaseinfosearch.org]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ][rarediseases.info.nih.gov]

    Missing: Urine 2 Ketoglutarate Increased
  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[doi.org] […] fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly and wide[doi.org]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Dubowitz Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ] 0002719 Respiratory insufficiency Respiratory impairment 0002093 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Ring Chromosome 10

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Atelosteogenesis Type 2

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] Flattened vertebrae 0000926 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory insufficiency Respiratory impairment 0002093 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Kleiner Holmes Syndrome

    […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov] Showing of 7 80%-99% of people have these symptoms Sandal gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Craniofrontonasal Dysplasia

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] weak muscle tone 0001252 Oral cleft Cleft of the mouth 0000202 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Short Stature due to Endocrine Disorder

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] tissue Reduced fat tissue below the skin 0003758 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Rieger anomaly 0000558 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased
  • Cutis Laxa

    Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] Abnormal positioning of fingers and toes, including adducted thumbs, is frequent (Reisner et al. , 1971; Philip, 1978) and was observed in both of our patients.[scielo.br]

    Missing: Psychomotor Development Profoundly Delayed Urine 2 Ketoglutarate Increased