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666 Possible Causes for Abnormal Behavior, Ectopia Lentis

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] A young child with homocystinuria is discussed, who presented with behavioral abnormalities, involuntary movement, mental retardation, and decreased vision since birth.[ncbi.nlm.nih.gov] Patients with cblD present with severe learning difficulties, behavioral problems and movement and gait abnormalities and patients with cblF and cblJ present with feeding[orpha.net]

  • Citrullinemia Type 2

    lentis, isolated, autosomal dominant Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Ehlers-Danlos syndrome, hydroxylysine-deficient Ehlers-Danlos syndrome[pentacorelab.hu] Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma.[treatable-id.org] Symptoms include yellowish skin and eyes (jaundice), low birth weight, confusion, restlessness, memory loss, low blood sugar, and abnormal behaviors.[globalgenes.org]

  • Marfan Syndrome

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] Behavior abnormalities, sometimes including autism spectrum disorder, are common.[ncbi.nlm.nih.gov] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] Basal cell carcinoma Hyperreflexia Behavioral abnormality Arrhythmia Disproportionate short-limb short stature Short thorax Abnormality of cardiovascular system morphology[mendelian.co] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org]

  • Tollner-Horst-Manzke Syndrome

    lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz[rarediseases.info.nih.gov] , Glutamate Excess, and Impaired Intellectual Development infantile cerebellar-retinal degeneration Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine[rgd.mcw.edu] lentis Isolated growth hormone deficiency type 1A Isolated growth hormone deficiency type 1B Isolated growth hormone deficiency type 2 Isolated growth hormone deficiency[rarediseases.info.nih.gov]

  • Aniridia

    It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis.[ncbi.nlm.nih.gov] The patient's phenotype includes intellectual disability, speech abnormalities, and autistic behaviors, but interestingly neither the patient, his brother, nor mother have[ncbi.nlm.nih.gov] In addition, we observed corneal opacity and microphthalmus in family 1, and strabismus, left ectopia lentis, microphthalmus, and microcornea in family 2.[ncbi.nlm.nih.gov]

  • Foveal Hypoplasia - Presenile Cataract Syndrome

    Ectopia lentis may be hereditary or acquired.[archive.org] Edema Hypertonia Syndactyly Osteoporosis Intellectual disability, mild Behavioral abnormality Hip dysplasia Feeding difficulties Abnormality of the skeletal system Delayed[mendelian.co] lentis-chorioretinal dystrophy-myopia syndrome Endophthalmitis Endotheliitis Essential iris atrophy Familial benign flecked retina Familial congenital palsy of trochlear[se-atlas.de]

  • Lens Coloboma

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] Because of association with other neural crest anomalies, it has been suggested that abnormal behavior of neural crest cells may lead to the formation of a bicuspid aortic[scielo.br] Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome Case Report Abstract A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan[egms.de]

  • Knobloch Syndrome Type 1

    In addition, six children had temporal ectopia lentis, found had posterior perinuclear lens opacity, two had developmental delay, one developed epilepsy, and one had heterotopic[cags.org.ae] Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase Infantile Hypotonia with Psychomotor Retardation Infantile Multisystem Neurologic Disease with Osseous[rgd.mcw.edu] ID Abbreviation Name OMIM ID Individuals Phenotypes Associated with genes Associated tissues Disease features 01764 - Ectopia lentis, isolated autosomal recessive 225100 16[databases.lovd.nl]

  • Hyperlysinemia Type 1

    . [3] Ocular diseases associated with ectopia lentis Simple ectopia lentis – simple ectopia lentis can occur as a congenital disorder or as a spontaneous disorder later in[eyewiki.aao.org] It results in metabolic acidosis, hypoglycemia, and behavioral changes.[icd10data.com] abnormalities, deafness, blindness, and additionally organomegaly and ophthalmologic findings.[centogene.com]

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