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1,313 Possible Causes for Mutation in the TMEM240 Gene, Thin Lips

  • Autosomal Dominant Mental Retardation Type 21

    The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] lips.[content.sciendo.com] Delayed speech and language development, Infantile muscular hypotonia, Malar flattening, Mandibular prognathia, Misalignment of teeth, Obesity, Poor fine motor coordination, Thin[genecards.org]

  • Systemic Scleroderma

    Abstract Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia.[ncbi.nlm.nih.gov] Conversely, thin and flat lips create the illusion of emotional coldness, stress, advanced age, and are considered unattractive 5 .[prime-journal.com] Full, well defined lips symbolize youth, beauty, attractiveness, and sensuality.[prime-journal.com]

    Missing: Mutation in the TMEM240 Gene
  • Ehlers-Danlos Syndrome Type 4

    These feature include large eyes, thin lips, a thin or pinched nose, blue sclera, and underdeveloped earlobes.[forgottendiseases.org] […] skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS ([healthline.com] […] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Varicose veins 0002619 5%-29% of people have these symptoms Abnormal intestine morphology Abnormality[rarediseases.info.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Hallermann-Streiff Syndrome

    […] calvarium Thin cranial bone 0010539 Thin ribs Slender ribs 0000883 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wormian bones Extra bones within[rarediseases.info.nih.gov] The mouth is small and the lips are thin. Typically one expects to find that the teeth are irregular, often fully erupted at birth.[healio.com] […] vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Fine hair Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Generalized[rarediseases.info.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Sanjad-Sakati Syndrome

    The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible.[ncbi.nlm.nih.gov] lips and micrognathia), and mild to moderate intellectual deficiency.[orpha.net] The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Glycogen Storage Disease Type 3

    thin vermillion border cardiac anomalies cardiomyopathy ventricular hypertrophy on ECG hepatic anomalies hepatomegaly hepatic fibrosis glycogen hepatocytic overload rarefied[humpath.com] […] type 3 (GSD3) Synopsis short stature growth retardation carniofacial anomalies midface hypoplasia deep-set eyes depressed nasal bridge broad upturned nasal tip bow-shaped lips[humpath.com]

    Missing: Mutation in the TMEM240 Gene
  • Fetal Alcohol Syndrome

    These include small eyes, short or upturned nose, flat cheeks, and thin lips.[americanpregnancy.org] […] upper lip.[ncbi.nlm.nih.gov] Guide), and (3) thin upper lip (Rank 4 or 5 on the Lip-Philtrum Guide).[pediatrics.aappublications.org]

    Missing: Mutation in the TMEM240 Gene
  • Chromosome 19q13.11 Deletion Syndrome

    […] skin 0000963 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Toe clinodactyly 0001863 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Underdeveloped[rarediseases.info.nih.gov] Third, these patients had typical facial dysmorphisms, such as thin lips (6/6), micro/retrognathia (6/6), large ears (4/6), and long face (4/6).[degruyter.com] , columella below alae nasi, thin lips, low set ears with large lobules ( b ), and cutis aplasia in midline of scalp ( c ).[nature.com]

    Missing: Mutation in the TMEM240 Gene
  • Cerebellotrigeminal Dermal Dysplasia

    lips (3) short stature (4) variable intelletual impairment (5) ataxia (6) strabismus (7) clinodactyly (8) corneal opacities (secondary to trigeminal anesthesia and repeated[meducator3.net] People with Gomez-Lopez-Hernandez Syndrome often have a short skull(brachycephaly), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears.[en.wikipedia.org] People with Gomez-Lopez-Hernandez Syndrome often have a short skull( brachycephaly ), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears. [4][en.wikipedia.org]

    Missing: Mutation in the TMEM240 Gene
  • Helsmoortel-van der Aa Syndrome

    The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] […] upper lip, and smooth philtrum.[uniprot.org] lips.[nature.com]

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