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269 Possible Causes for Coronal Cleft of Vertebrae, Hypoplastic Testicle, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    cleft vertebrae ; Coxa valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism[mousephenotype.org] 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] Phenotypes Abnormality of femoral epiphysis ; Anterior bowing of long bones ; Autosomal recessive inheritance ; Blepharophimosis ; Cataract ; Congenital hip dislocation ; Coronal[mousephenotype.org]

  • 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: Coronal Cleft of Vertebrae
  • Renpenning Syndrome

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

    Missing: Coronal Cleft of Vertebrae
  • Hypogonadotropic Hypogonadism Type 22

    Mikelsaar, Ruth, Lissitsina, Jelena, Bartsch, Oliver Source: Journal of applied genetics 2011 v.52 no.3 pp. 331-334 ISSN: 1234-1983 Subject: chromosomes, humans, spermatogenesis Abstract: We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. This case[…][pubag.nal.usda.gov]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Kallmann Syndrome Type 4

    […] doi: 10.1097/01.XHA.0000479441.49042.58 Review articles Abstract Author Information Authors Article Metrics Metrics Delayed, failed, or arrested puberty is the consequence of hypogonadism among adolescent boys. A variety of congenital and acquired conditions that affect the hypothalamus and/or the pituitary gland[…][journals.lww.com]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 8

    OMIM : 57 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic[…][malacards.org]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • 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: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Moebius Syndrome

    Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case[…][ncbi.nlm.nih.gov]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Factor XIII Deficiency

    From Wikidata Jump to navigation Jump to search Human disease factor XIII deficiency deficiency, Laki-Lorand factor factor XIII deficiency disease (disorder) hereditary factor XIII deficiency disease (disorder) Hereditary factor XIII deficiency disease Factor XIII deficiency disease Fibrin-stabilizing factor deficiency[…][wikidata.org]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Warburg Micro Syndrome 3

    Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al.,[…][ncbi.nlm.nih.gov]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root