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44 Possible Causes for Hyperthreoninemia, Overfolded Superior Helix

  • 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]

  • Leber Congenital Amaurosis

    Leber's congenital amaurosis associated with hyperthreoninemia. Am. J. Ophthal. 101: 475-479, 1986. [PubMed: 3083684] [Full Text: (86)90650-1] Khan, A.[ncbi.nlm.nih.gov] […] retinal dystrophy) Achromatopsia *Photophobia *Specific ERG Congenital stationary night-blindness *Myopia *Specific ERG pattern *Better visual acuity Abetalipoproteinemia Hyperthreoninemia[imoe.it] Other In addition, an LCA-like retinal dystrophy has been documented in individuals with abetalipoproteinemia (OMIM 200100 ), hyperthreoninemia (OMIM 273770 ), and disorders[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Methylmalonic Acidemia

    Da Wikimedia Commons, l'archivio di file multimediali liberi Jump to navigation Jump to search acidemia metilmalonica organic acidemia that involves an accumulation of methylmalonic acid in the blood Carica un file multimediale Wikipedia Istanza di malattia, Designated intractable/rare diseases Sottoclasse di acidosi organiche[…][commons.wikimedia.org]

    Missing: Overfolded Superior Helix
  • 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] […] hearing impairment Focal seizures Autism Talipes equinovalgus Hyperactivity Abnormality of the genital system Midface retrusion Cerebral atrophy Hyperthreoninuria Eye poking Hyperthreoninemia[mendelian.co]

  • 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] […] divided nasal tip, depressed nasal bridge, short nasal septum, cleft lip and palate, lip pits, dental abnormalities), the ears (microtic, low-set and/or posteriorly rotated, overfolded[accessanesthesiology.mhmedical.com]

    Missing: Hyperthreoninemia
  • Camptodactyly Syndrome Guadalajara Type 1

    Homepage Rare diseases Search Search for a rare disease Camptodactyly syndrome, Guadalajara type 2 Disease definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple[…][orpha.net]

    Missing: Hyperthreoninemia
  • FGFR2-Related Bent Bone Dysplasia

    NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely[…][malacards.org]

    Missing: Hyperthreoninemia
  • Leber Congenital Amaurosis Type 1
    Missing: Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] […] mental retardation [; ; ]; #613659:Gastric cancer, somatic [; ; ]; #614592:Bent bone dysplasia syndrome [Open metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded[panelapp.genomicsengland.co.uk]

    Missing: Hyperthreoninemia
  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] […] also been a term used to describe this condition. 10 Clinical features EAR ANOMALIES/HEARING LOSS External auricular anomalies in TBS typically include small ears with an overfolded[jmg.bmj.com]

    Missing: Hyperthreoninemia

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