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5,120 Possible Causes for Early-Onset Coronary Artery Stenosis, Mental Retardation, Mild Muscle Weakness in 20% of Female Mutation Carriers

  • Duchenne Muscular Dystrophy

    Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[medterms.com] Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with[ncbi.nlm.nih.gov] The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • 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] Some of these features may be absent, particularly clouding of the cornea and mental retardation.[jamanetwork.com]

    Missing: Mild Muscle Weakness in 20% of Female Mutation Carriers
  • Myotonic Dystrophy

    A milder form of disease occurs in very few female carriers, where mild form of muscle weakness develops in 2.5-20% of affected female carriers 1.[centogene.com] Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur.[curlie.org] retardation and that is inherited as an autosomal dominant trait — abbreviation DM — called also Steinert's disease Comments on myotonic dystrophy What made you want to look[merriam-webster.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • 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] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Irregular carpal bones 0004236 J-shaped sella turcica 0002680 Mandibular[rarediseases.info.nih.gov]

    Missing: Mild Muscle Weakness in 20% of Female Mutation Carriers
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    A milder form of disease occurs in very few female carriers, where mild form of muscle weakness develops in 2.5-20% of affected female carriers 1.[centogene.com] […] associated with mental retardation and mild structural brain abnormalities.[genecards.org] […] autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental[abcam.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Muscular Dystrophy-Dystroglycanopathy Type B6

    A milder form of disease occurs in very few female carriers, where mild form of muscle weakness develops in 2.5-20% of affected female carriers 1.[centogene.com] […] dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome[informatics.jax.org] Two sisters in a consanguineous family had moderate mental retardation and cerebellar malformations, together with dystrophic changes and markedly reduced α-dystroglycan glycosylation[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • 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] Hurler–Scheie syndrome (also known as "Mucopolysaccharidosis type I H-S") is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. [1][ipfs.io]

    Missing: Mild Muscle Weakness in 20% of Female Mutation Carriers
  • Pfeiffer-Palm-Teller Syndrome

    Elfin facies Paroxysmal bursts of laughter Coronary artery stenosis Abnormality of the bladder Infantile hypercalcemia Renovascular hypertension Overriding aorta Abnormal[mendelian.co] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature[rarediseases.info.nih.gov] retardation facial dysmorphism Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium syndrome multiple[bioreference.net]

    Missing: Mild Muscle Weakness in 20% of Female Mutation Carriers
  • Hypomandibular Faciocranial Dysostosis

    Overfriendliness Nystagmus-induced head nodding Early onset of sexual maturation Coronary artery stenosis Functional abnormality of male internal genitalia Dyssynergia Thyroid[mendelian.co] retardation Cardiac septal defect Patent ductus arteriosus Note that Hypomandibular faciocranial dysostosis symptoms usually refers to various symptoms known to a patient[checkorphan.org] Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs[scinapse.io]

    Missing: Mild Muscle Weakness in 20% of Female Mutation Carriers
  • Impacted Cerumen

    Moreover, a strong propensity for recurrent cerumen impaction in the mentally retarded population was found.[ncbi.nlm.nih.gov] Abstract The incidence of occlusion of the external auditory canal due to impacted cerumen was determined for 44 mentally retarded subjects in comparison with 44 nonretarded[ncbi.nlm.nih.gov] Impacted cerumen is a major cause of primary care consultation, and a common comorbidity in ENT patients, the elderly, infirm and people with mental retardation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis Mild Muscle Weakness in 20% of Female Mutation Carriers

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