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321 Possible Causes for Anteverted Nostril, Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

  • Achondrogenesis, Type 1A

    nostrils; long philtrum; retrognathia; increased distance between lower lip and lower edge of chin; double chin appearance (often) Neck – Extremely short Thorax – Short and[odlarmed.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[enhancedwiki.territorioscuola.it] Note the disproportionately large head, large and prominent forehead, flat facial plane, flat nasal bridge, small nose with severely anteverted nostrils, micrognathia, extremely[emedicine.medscape.com]

  • Achondrogenesis

    nostrils; long philtrum; retrognathia; increased distance between lower lip and lower edge of chin; double chin appearance (often) Neck – Extremely short Thorax – Short and[odlarmed.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] A nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), showed defects that[symptoma.com]

  • Aarskog Syndrome

    The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and[medicinenet.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Early Infantile Epileptic Encephalopathy

    Ohtahara syndrome (OS), is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological[…][en.wikipedia.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Pallister-Hall Syndrome

    (anteverted nares) and a broad or flat nasal bridge; and/or an unusually long vertical groove in the middle of the upper lip (philtrum).[rarediseases.org] […] distinctive abnormalities of the head and facial (craniofacial) area including unusually small ears that are rotated toward the back of the head; a short nose with upturned nostrils[rarediseases.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Cold-Induced Sweating Syndrome 1

    All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly[orpha.net]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Smith Lemli Opitz Syndrome

    Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia[indianpediatrics.net] A typical face (with incompletely rotated ears, palpebral ptosis, anteverted nostrils, flattened nasal base, and micrognathia) is easily recognized in all 11 patients.[scielo.br]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Coffin-Lowry Syndrome

    […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide[rarediseases.info.nih.gov] Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ] 0006482 Anteverted[rarediseases.info.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Mucopolysaccharidosis 1H

    nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net] […] thoracic-lumbar kyphosis, progressive coarsening of the facial features (including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted[orpha.net]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Atkin Syndrome

    nostrils Small jaw Thick lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome[checkorphan.org] nostrils, micrognathia, and thick lips.[whonamedit.com] Macroorchidism Prominent supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face Prominent/Broad forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted[checkorphan.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

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