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16 Possible Causes for Mental Retardation, Overfolded Superior Helix, Seizure

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com] Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[cags.org.ae]

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov] Early OLT may limit the development of mental retardation and/or cardiomyopathy.[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] […] sound-startle, a predominantly hypertonic reaction varying from hyperekplexia to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked epileptic seizures[ncbi.nlm.nih.gov] In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation.[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar] The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral[ncbi.nlm.nih.gov]

  • Camptodactyly Syndrome Guadalajara Type 1

    […] can lead to fall injuries affecting the head, or cause bone fractures Status Epilepticus is a seizure that lasts longer than normal.[dovemed.com] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[rarediseases.info.nih.gov] RETARDATION AND DIGITAL ANOMALIES congenital microcephaly and moderately severe mental retardation, complete syndactyly of toes 4 and 5.[ozemedicine.com]

  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] She was started on carbamazepine once again and was seizure-free since then.[annalsofian.org] retardation.[ncbi.nlm.nih.gov]

  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] Most common symptoms of BRANCHIOOCULOFACIAL SYNDROME; BOFS Autosomal dominant inheritance Seizures Short stature Pica Hearing impairment More info about BRANCHIOOCULOFACIAL[mendelian.co] mental retardation.[pediascape.org]

  • FGFR2-Related Bent Bone Dysplasia

    Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Aldosterone-producing adenoma with seizures[csbg.cnb.csic.es] retardation Citation reference(s) - Refseq URL Genomic reference sequence Curators (1) Karen E.[databases.lovd.nl] […] plus, type 5, susceptibility to Sequencing of all coding exons of the gene - - 1.4 GABRD Generalised Epilepsy with febrile seizures plus (GEFS ) Sequencing of all coding[cegat.de]

  • Chudley-McCullough Syndrome

    helix Narrow palpebral fissure Aortic aneurysm Aortic regurgitation Interrupted aortic arch Abnormality of earlobe Sandal gap Cardiomyopathy Coarse facial features Congenital[mendelian.co] It is important to diagnose CMS, since typically, patients with these types of brain malformations have very substantial developmental problems and seizures; therefore it[depts.washington.edu] Showing of 15 5%-29% of people have these symptoms Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental[rarediseases.info.nih.gov]

  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] The most common seizure type seen in LKS is focal motor seizure. Focal seizures can become tonic-clonic seizures, also called bilateral convulsion.[epilepsy.com] Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome with Convulsions[rgd.mcw.edu]

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