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289 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Microphallus, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[encyclopedia.com] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[doi.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Microphallus
  • Hypogonadotropic Hypogonadism

    The twins manifested with microphallus, cryptorchidism, and deficient postnatal activation of the hypothalamic-pituitary-gonadal axis, findings consistent with IHH.[ncbi.nlm.nih.gov] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[omicsonline.org] Beyond single case reports, data are not available for 48,XXXY; however, microphallus is described in case reports, ( 10 ) and it is predicted that mean phallus length would[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Warburg Micro Syndrome 3

    He had microphallus, scrotal hypoplasia and atrophic testes. He had axial hypotonia and the deep tendon reflexes were brisk. There was no organomegaly.[iamg.in]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Moebius Syndrome

    The clinicopathological findings on a 17-year-old female with the Möbius/Moebius syndrome are reported. The signs and symptoms of this neuromuscular condition include congenital bilateral or unilateral palsies of the facial and abducens cranial nerves and a broad scope of multisystem abnormalities. A case of unilateral[…][ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Laurence Moon Syndrome

    Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome This is a rare autosomal recessive condition. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered valid terms, because the patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which[…][patient.info]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Anorchia

    Physical examination may reveal microphallus or normal external male genitalia with bilateral or unilateral palpable intrascrotal or inguinal masses or no palpable masses.[symptoma.com] Family members of 7/26 cases had histories of primary ovarian failure in the mother (n   2), or sister 46,XX, together with fetal malformations of the only boy with microphallus[ncbi.nlm.nih.gov] However, they reported microphallus in 46% of patients, with similar proportions in boys with or without a palpable mass, whilst only one of our boys had microphallus.[journals.plos.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is an emerging neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene on chromosome 18q21. It is characterized by severe intellectual disability, seizures, microcephaly, constipation and a distinctive facial gestalt. Although the overlapping phenotype of microcephaly, epilepsy,[…][ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Fraser Syndrome

    Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962. It is characterized by developmental[…][en.wikipedia.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Ambiguous Genitalia

    In this present study, we report a normal male karyotype manifesting microphallus, bifid scrotum/labia majora with bilateral palpable gonads, and a blind-ended pseudovagina[ncbi.nlm.nih.gov] Apparent male genitalia with bilateral undescended testes, a microphallus, proximal hypospadias or distal or mid-shaft hypospadias with undescended testis.[pedclerk.bsd.uchicago.edu] Genitalia can be ambiguous and are frequently assigned to the female gender because of microphallus, fused scrotum, absent testes, and absence of the uterus.[disorders.eyes.arizona.edu]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs