Create issue ticket

267 Possible Causes for Hypoplastic Testicle, Prominent High Nasal Root, Synkinesia

  • Kallmann Syndrome Type 4

    Synkinesia has been reported in patients with Kallmann syndrome (29,32,33).[78stepshealth.us] Synkinesia (KAL1), dental agenesis (FGF8IFGFR1), digital bony abnormalities (FGF8IFGFR1) and hearing loss (CHD7) can be useful for prioritizing genetic screen [ 6 ].[omicsonline.org] Abnormalities in spatial perception have been found specifically in patients with Kallmann syndrome with synkinesia (35).[78stepshealth.us]

    Missing: Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 8

    Synkinesia (KAL1), dental agenesis (FGF8IFGFR1), digital bony abnormalities (FGF8IFGFR1) and hearing loss (CHD7) can be useful for prioritizing genetic screen [ 6 ].[omicsonline.org] […] cryptorchidism, midline defects–eg, cleft lip and palate, unilateral renal agenesis, horseshoe kidney, nerve deafness and hearing loss, color blindness, skeletal abnormalities; synkinesia[medical-dictionary.thefreedictionary.com] Synkinesia has been reported only in X-linked Kallmann syndrome patients.[emedicine.medscape.com]

    Missing: Prominent High Nasal Root
  • Woodhouse Sakati Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Prominent[rarediseases.info.nih.gov] […] forehead, flattened occiput, triangular face, prominent nasal root, hypertelorism, downward slanting palpebral fissures), scoliosis, hyperreflexia and camptodactyly.[sites.uclouvain.be] […] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.[rarediseases.info.nih.gov]

    Missing: Synkinesia
  • Hypogonadotropic Hypogonadism Type 22

    […] include a small penis or undescended testicles in males, kidney abnormalities, cleft lip and/or palate, clubfoot, hearing problems, and central nervous system problems such as synkinesia[healthofchildren.com]

    Missing: Prominent High Nasal Root
  • Schwartz-Jampel Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]

    Missing: Synkinesia
  • Renpenning Syndrome

    He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

    Missing: Synkinesia
  • Qazi-Markouizos Syndrome

    […] atrophy Synophrys Narrow chest Thick eyebrow Hirsutism Poor speech Wide intermamillary distance Prominent nose Dental crowding Low anterior hairline Broad hallux Bimanual synkinesia[mendelian.co] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov] […] or weak muscle tone 0001252 Narrow palate Narrow roof of mouth 0000189 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Prominent[rarediseases.info.nih.gov]

    Missing: Hypoplastic Testicle
  • Brandt Syndrome

    From Wikidata Jump to navigation Jump to search Human disease Acrodermatitis enteropathica, zinc deficiency type Acrodermatitis enteropathica zinc deficiency type Inherited zinc deficiency Danbolt-Cross syndrome ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ Brandt syndrome AE ACRODERMATITIS[…][wikidata.org]

    Missing: Prominent High Nasal Root Synkinesia
  • 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: Prominent High Nasal Root Synkinesia
  • Kallmann Syndrome

    An X-linked mode of transmission was assumed on the basis of synkinesia and the presence of oligomenorrhoea in the mother.[ncbi.nlm.nih.gov] In both sexes, synkinesia was enriched but not unique to patients with KAL1 RSVs compared with KAL1-negative probands (43% vs 12%; P .05).[ncbi.nlm.nih.gov] Synkinesia. Synkinesia is most often thought to be observed in KAL1 and FGFR1 genotypes ( 7 ) and was more often seen in KAL1 vs non- KAL1 probands.[doi.org]

    Missing: Hypoplastic Testicle Prominent High Nasal Root