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1,753 Possible Causes for Delayed Milestone, High Inter- and Intrafamiliar Variability of Phenotype, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    Developmental delayDelayed motor milestones, language delay, mental retardation Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive[doi.org] ; self-image Growth deficiency Growth deficiencies – Short stature Borderline growth hormone (GH) stimulation tests Growth hormone (GH) replacement Obesity Developmental delay[doi.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Delayed Milestone
  • Duchenne Muscular Dystrophy

    All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed.[patient.info] Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay.[orpha.net] delay.[patient.info]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Mental Retardation

    In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking.[differencebetween.net] milestones, especially language development Behavioral phenotype may also aid diagnosis as course evolves Cytogenetic studies; brain imaging; metabolic studies Will vary[aafp.org] Unknown cause of MR 30 to 50% of all cases of MR Variable; diagnosis may evolve over time, so repeated evaluations may be helpful Nonspecific cluster of minor malformations; delayed[aafp.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Mucopolysaccharidosis

    However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[thinkgenetic.com] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[babysfirsttest.org] Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking[rarediseases.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Niemann-Pick Disease Type C

    Neurological symptoms were generally more common in NP-C cases 4years of age than in younger patients, with the exception of hypotonia and delayed developmental milestones[ncbi.nlm.nih.gov] […] development milestones childhood presentation: ataxia, falls, poor school performance adolescent and adult prestenation: psychiatric illnesses, ataxia Radiographic features[radiopaedia.org] […] developmental milestones.[patient.info]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Down Syndrome

    One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. 1 Another study[nichd.nih.gov] If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, crawling and walking.[marchofdimes.org] Babies with Down syndrome may reach developmental milestones later than other babies.[marchofdimes.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Glycogen Storage Disease Type 2

    The main clinical findings include floppy baby appearance, delayed motor milestones and feeding difficulties. Moderate hepatomegaly may be present.[en.wikipedia.org] […] motor milestones Progressive proximal muscle weakness (esp. trunk and lower limbs) Gait abnormalities Muscle pain Difficulty climbing stairs Frequent falls Scapular winging[cuh.nhs.uk] Macroglossia, mild hepatomegaly, feeding difficulties, and significantly delayed motor milestones are also typical manifestations of this rapidly progressive form; most patients[dx.doi.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Achondroplasia

    Motor development of the child is delayed. Milestones such as head control and independent sitting, standing, and ambulation may get delayed by as much as by 6 months.[boneandspine.com] […] developmental milestones, and spinal stenosis (narrowing of the open spaces within the spine).[paleyinstitute.org] […] developmental milestones such as walking (which may occur between 18 to 24 months) What causes achondroplasia?[childrenshospital.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Some children with LCHAD have developmental delays.[babysfirsttest.org] Symptoms are progressive spastic paraplegia, failure to thrive, delayed milestones, hyperactivity and irritability, with episodic vomiting, hyperammonemia and seizures.[genico.ch] If you think that your baby is not meeting their developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care.[babysfirsttest.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs