Create issue ticket

830 Possible Causes for Delayed Speech and Language Development, Profound Psychomotor Developmental Delay

  • Mental Retardation

    They may also have associated speech and language delay, low self-esteem, low levels of concentration and under-developed social skills.[web.archive.org] 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] Some of the early signs can include: Delays in reaching or failure to achieve milestones in motor skills development (sitting, crawling, walking) Slowness learning to talk[en.wikipedia.org]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • GLUT1 Deficiency Syndrome

    Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) is a rare disease with an estimated birth incidence of 1 in 90,000 (Coman, 2006). This birth incidence translates to an estimated prevalence of 3,000 to 7,000 in the U.S. Glut1 DS is a debilitating disease characterized by seizures, movement disorders and[…][epilepsy.com]

    Missing: Profound Psychomotor Developmental Delay
  • Dubowitz Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development[rarediseases.info.nih.gov] Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Episodic vomiting 0002572 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical[rarediseases.info.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • Viral Upper Respiratory Tract Infection

    .* The condution hearing loss caused by OME can result in delayed development, particularly of speech and language.[almostadoctor.co.uk]

    Missing: Profound Psychomotor Developmental Delay
  • Mucopolysaccharidosis 2

    Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Author information 1 Medical Genetics Service, Hospital de Clinicas, Porto Alegre, RS, Brazil. Abstract Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficit of the enzyme[…][ncbi.nlm.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • Prader-Willi Syndrome

    Speech and language therapy during childhood will help with impaired speech and delay in developing language.[yourhormones.info] […] or language disorder 759.8 Other specified anomalies 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS References Jin, D.K. et al.[genedx.com] Turnaround Time: 3-4 weeks Preferred Specimen: 2-5 mL Blood - Lavender Top Tube Alternative Specimen: Oral Rinse (30-40 mL) Buccal Swabs Billing ICD Codes: 315.3 Developmental speech[genedx.com]

    Missing: Profound Psychomotor Developmental Delay
  • Propionic Acidemia

    Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. Riemersma M 1, 2 , Hazebroek MR 2, 3 , Helderman-van den Enden ATJM 1 , Salomons GS 4 , Ferdinandusse S 5 , Brouwers MCGJ 2, 6 , van der Ploeg L 7 , Heymans S 2, 3 , Glatz JFC 1, 8 , van den Wijngaard A 1 , Krapels IPC 1 , Bierau J 1[…][ncbi.nlm.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • Wiedemann-Steiner Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development[rarediseases.info.nih.gov] Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat[rarediseases.info.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • Hyperphosphatasia with Mental Retardation Syndrome 2

    Poor growth, microcephaly (1 patient), moderate to severe delayed speech and language development, plagiocephaly (1 patient), coronal synostosis (1 patient), hypertelorism[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] speech and language development Short philtrum Epicanthus Autosomal dominant inheritance Sparse hair Hypoplasia of the corpus callosum Microcephaly Congenital onset Downslanted[mendelian.co]

Further symptoms