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5,450 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Mental Retardation

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] retardation.[medical-dictionary.thefreedictionary.com] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation.[en.wikipedia.org] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Symptoms include mental retardation, dwarfism, dysostosis multiplex, corneal clouding, deafness, hernia, stiff joints (claw hand), and valvular heart disease.[medicine.academic.ru] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net]

  • Mucopolysaccharidosis

    The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Gaucher Disease

    retardation, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease.[ncbi.nlm.nih.gov] Ophthalmic evaluation in a 57-year-old white patient demonstrated corneal opacities scattered throughout the cornea.[ncbi.nlm.nih.gov] retardation, muscle dysfunction, and seizures; death from respiratory failure usually occurs in early childhood.[britannica.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[icd10data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cerebellotrigeminal Dermal Dysplasia

    There have been 19 cases documented to date and we report on two additional male patients, 1 and 6 years of age, with typical features, mild mental retardation and dyspraxia[ncbi.nlm.nih.gov] The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities[ncbi.nlm.nih.gov] Research of Gomez Lopez Hernandez Syndrome has been linked to Neurocutaneous Syndromes, Dysplasia, Congenital Absence, Apraxias, Mild Mental Retardation.[novusbio.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cockayne Syndrome

    Cockayne syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child.[ncbi.nlm.nih.gov] Cataracts and cloudiness of the cornea (corneal opacity) are common. The loss of and damage to nerves of the optic nerve, causing optic atrophy can occur.[en.wikipedia.org] Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 7

    These disorders are associated with the accumulation of GAGs in tissues with organomegaly, mental retardation and short stature.[ncbi.nlm.nih.gov] opacity and iris coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the[en.wikipedia.org] The severe form is associated with progressive mental retardation and physical disability, with most individuals dying before age 15.[encyclopedia.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Turner Syndrome

    RETARDATION.[hon.ch] Turner syndrome is not associated with mental retardation (as had been described in older literature), although females with Turner Syndrome may have difficulty in spatial[path.upmc.edu] Mental retardation is not a feature of Turner syndrome.[nature.com]

    Missing: Early-Onset Coronary Artery Stenosis

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