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3,532 Possible Causes for Congenital Onset, Gyri Decreased or Absent

  • Neu-Laxova Syndrome Type 2

    onset Short neck Intrauterine growth retardation Low-set ears Ptosis Hypertelorism Ichthyosis Sloping forehead Decreased fetal movement Abnormal vitreous humor morphology[mendelian.co] , juvenile, or adult onset,231300 CYP1B1132.110.99Peters anomaly,604229 CYP21A215.30.560.3Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency,201910 CYP21A215.30.560.3Hyperandrogenism[qgenomics.com] Congenital onset is rare. 1035 There is an equal sex incidence, but its clinical expression is usually milder in females. 1033 Verrucous lesions resembling acrokeratosis verruciformis[plasticsurgerykey.com]

  • Arterial Tortuosity Syndrome

    […] diaphragmatic hernia 0000776 Congenital onset Symptoms present at birth 0003577 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity[rarediseases.info.nih.gov] She had a history of congenital rectal prolapse, colonic diverticulosis, and iron deficiency anemia.[neurology.org] TAAD has a highly variable age of onset and presentation, and may involve additional features such as congenital heart defects and other features of connective tissue disease[mayomedicallaboratories.com]

    Missing: Gyri Decreased or Absent
  • Primary Hypertrophic Osteoarthropathy

    Osteoporosis [25] Rheumatoid arthritis [31] Ankylosing spondylitis [32] En coup de sabre (a form of localized scleroderma) [33] In certain instances, several years after the onset[emedicine.com] Its onset occurs later, without familial or hereditary occurrence, and its bone changes are more acute and painful. Radiographic findings present certain differences.[sboportal.org.br] […] pachydermoperiostosis or primary hypertropic osteoarthropathy, diseases generally known to result in secondary hypertrophic osteoarthropathy (Crohn disease, myelofibrosis, and congenital[emedicine.com]

    Missing: Gyri Decreased or Absent
  • Shaheen Syndrome

    , 5 21 737 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21 738 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 739 c SLV006[malacards.org] , AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION Ataxia-Microcephaly-Cataract Syndrome Atonic-Astatic Syndrome of Foerster Aural Atresia, Multiple Congenital[rgd.mcw.edu] Type Xiv 23 536 c DRR009 Diarrhea 6 23 537 c OST138 Osteogenesis Imperfecta, Type Xvii 23 538 c OST169 Osteogenesis Imperfecta, Type Xviii 23 539 c PLT022 Pili Torti, Early-Onset[malacards.org]

    Missing: Gyri Decreased or Absent
  • Erythropoietic Porphyria

    These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.[ncbi.nlm.nih.gov] A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.[meajo.org] Cutaneous signs of Günther's disease (congenital erythropoietic porphyria) developing 5 years after the onset of symptomatic thrombocytopenia are described in a 65-year-old[ncbi.nlm.nih.gov]

    Missing: Gyri Decreased or Absent
  • Congenital Merosin-Positive Muscular Dystrophy

    However, data on early-onset and usually severe congenital muscular dystrophies are limited.[ncbi.nlm.nih.gov] The disease spectrum within the dystroglycanopathies ranges from congenital onset with CNS and eye involvement, to congenital onset without eye involvement and mild development[ncbi.nlm.nih.gov] Recently, children with congenital onset of Lamin deficiency were found presenting with prominent weakness in the neck known as, 'Dropped-head Syndrome,' as well as spinal[disabled-world.com]

    Missing: Gyri Decreased or Absent
  • Amish Lethal Microcephaly

    onset Symptoms present at birth 0003577 Flexion contracture Flexed joint that cannot be straightened 0001371 Lactic acidosis Increased lactate in body 0003128 Muscular hypotonia[rarediseases.info.nih.gov] onset Brain atrophy Ptosis Open mouth High palate Congenital muscular dystrophy Myopathic facies Generalized muscle weakness Muscular dystrophy Ventriculomegaly Strabismus[mendelian.co] It has been classified in two types based on the onset: [7] Congenital [ edit ] Isolated Familial ( autosomal recessive ) microcephaly Autosomal dominant microcephaly X-linked[en.wikipedia.org]

    Missing: Gyri Decreased or Absent
  • Dysequilibrium Syndrome

    The differential diagnosis of VLDLR -associated cerebellar hypoplasia ( VLDLR -CH) includes autosomal recessive conditions characterized by congenital or very early-onset[ncbi.nlm.nih.gov] Congenital disorders of glycosylation (CDG). The CDGs are characterized by abnormalities of glycoprotein glycosylation.[ncbi.nlm.nih.gov] Onset is most commonly in infancy and manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing[ncbi.nlm.nih.gov]

    Missing: Gyri Decreased or Absent
  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    onset X-linked recessive inheritance Constipation Respiratory failure Gastroesophageal reflux Feeding difficulties in infancy Cerebral hypomyelination Need help with a diagnosis[mendelian.co] Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological data: Class of prevalence: Average age onset[csbg.cnb.csic.es] It has been classified in two types based on the onset: [7] Congenital [ edit ] Isolated Familial ( autosomal recessive ) microcephaly Autosomal dominant microcephaly X-linked[en.wikipedia.org]

    Missing: Gyri Decreased or Absent
  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    onset Symptoms present at birth 0003577 Decreased adenosylcobalamin 0003145 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased[rarediseases.info.nih.gov] […] these symptoms is not available through HPO Abnormal posturing 0002533 Anemia Low number of red blood cells or hemoglobin 0001903 Autosomal recessive inheritance 0000007 Congenital[rarediseases.info.nih.gov]

    Missing: Gyri Decreased or Absent

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