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3,397 Possible Causes for Basal Cell Carcinoma, Cognitive Developmental Delay, Relative Macrocephaly in Childhood

  • Chromosome 19q13.11 Deletion Syndrome

    cell carcinoma in Caucasian Americans.[cebp.aacrjournals.org] Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited. Carcinogenesis (Lond.) , 22 : 899 -904, 2001 .[cebp.aacrjournals.org] DNA repair and aging in basal cell carcinoma: a molecular epidemiology study. Proc. Natl. Acad. Sci USA , 90 : 1614 -1618, 1994 . Shen M. R., Jones I.[cebp.aacrjournals.org]

    Missing: Relative Macrocephaly in Childhood
  • Waisman Syndrome

    delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[ng.neurology.org] Cysts and Numerous Skin Lesions (Naevoid Basal Cell Carcinoma) - UPMC (US) Basal Cell Nevus Syndrome - OMIM (US) Naevoid Basal Cell Carcinoma Syndrome - Atlas of Genetics[facmed.unam.mx] […] phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language[onlinelibrary.wiley.com]

    Missing: Relative Macrocephaly in Childhood
  • Early Infantile Epileptic Encephalopathy Type 6

    cell or squamous cell carcinoma Immune Immunodeficiency screening incl immunoglobulin level, antibody responses to vaccines, & number of B & T lymphocytes Referral to immunologist[ncbi.nlm.nih.gov] Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death[ncbi.nlm.nih.gov] delay or cognitive outcome did not differ between both groups.[pediatricneurologybriefs.com]

    Missing: Relative Macrocephaly in Childhood
  • Gorlin Syndrome

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] […] syndrome (disorder) Naevoid basal cell carcinoma syndrome basal cell nevus syndrome Gorlin syndrome edit English nevoid basal cell carcinoma syndrome an autosomal dominant[wikidata.org] First degree relative with NBCCS Minor criteria Childhood medulloblastoma (also called primitive neuro-ectodermal tumor [PNET]) Lympho-mesenteric or pleural cysts Macrocephaly[en.wikibooks.org]

    Missing: Cognitive Developmental Delay
  • Helsmoortel-van der Aa Syndrome

    Clinical Criteria for Diagnosis of Gorlin-Goltz Syndrome* Major Criteria: Multiple ( 2) basal cell carcinomas at any age or one basal cell carcinoma at less than 30 years[reviewofophthalmology.com] To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[f1000research.com] , behavioral problems, or developmental delay.[eyewiki.aao.org]

    Missing: Relative Macrocephaly in Childhood
  • Wiedemann-Rautenstrauch Syndrome

    Seite 86 - Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85: 841-851. ‎[books.google.de] Página 369 - Nevoid basal cell carcinoma syndrome in a person with dark skin. J Am Acad Dermatol 2003; 49: 332-5 LeSueur BW, Silvis NG, Hansen RC.[books.google.es] Basal cell carcinoma in children: report of 3 cases. Arch Dermatol 2000; 136: 370-2 Turner MB, Mallory SB. Nevoid... ‎ Página 315 - Breugem CC, Alders M.[books.google.es]

    Missing: Relative Macrocephaly in Childhood
  • Fitzsimmons-Guilbert Syndrome

    CELL NEVUS SYNDROME NEVOID BASAL CELL CARCINOMA (BCC) SYNDROME GORLIN-GOLTZ SYNDROME syndrome of autosomal dominant inheritance characterized by (1) multiple cutaneous basal[radiologykey.com] Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal.[nectarmutation.org] He has moderate cognitive handicap and pervasive developmental delay.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    Abstract Background An 83-year-old man presented with hypertension, hyperlipidemia, and a previous basal cell carcinoma, having developed progressive worsening of his balance[nature.com]

    Missing: Relative Macrocephaly in Childhood
  • Autosomal Recessive Spastic Paraplegia Type 20

    Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones.[cags.org.ae] […] disorder with cardiac arrhythmia 617173 604447 Autosomal recessive GNB5 15q21.2 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 617182 604447[mnglabs.com]

    Missing: Basal Cell Carcinoma
  • Seckel Syndrome

    Carcinoma (Nbcc) Syndrome (Nbccs, Nbs) Nevoid Basal-Cell Epithelioma-Jaw Cysts-Bifid Rib Syndrome Nevus Osteohypertrophicus Nevus Pigmentosus Systematicus Nevus Sebaceous[neo-genetics.com] cell carcinoma syndrome 塚原 正人 309 161 Nevo syndrome 近藤 達郎 311 162 nevus 黒澤 健司 313 163 Niemann-Pick disease (A, B, C) 桜庭 均 315 164 night blindness, congenital 斉藤 伸治 318 165[nippon-rinsho.co.jp] cell carcinoma syndrome Nevoid hypermelanosis, linear and whorled - See Linear and whorled nevoid hypermelanosis Nevus comedonicus Nevus comedonicus syndrome Nevus mucinosis[rarediseases.info.nih.gov]

    Missing: Relative Macrocephaly in Childhood