Genetic disorders with OMIM but no gene
32 entries in the Genetic Disorders with OMIM But No Gene compendium.
Accessory auricleCongenital nodule near the ear, often surgically correctable.AcrogeriaA congenital syndrome of localized premature skin aging.Acropectoral syndromeSkeletal dysplasia syndrome linked to 7q36 and LMBR1 gene.Aplasia cutis congenitaRare congenital absence of skin, often on scalp.Bazex–Dupré–Christol syndromeA rare X-linked dominant genodermatosis with multiple basal cell carcinomas.Berdon syndromeA rare, fatal genetic disorder affecting bladder, colon, and intestines.Blue diaper syndromeRare metabolic disorder causing blue urine in infants.Branchial cleft cystCongenital neck cyst from failed embryonic cleft obliteration.CHIME syndromeRare congenital syndrome with colobomas, heart defects, and ichthyosis.Coffin–Siris syndromeRare genetic disorder causing developmental delays and absent fifth nails.Constriction ring syndromeCongenital disorder with unknown cause, producing constriction rings on extremities.Craniodiaphyseal dysplasiaRare bone disorder causing skull calcium buildup and early death.Cronkhite–Canada syndromeRare syndrome of GI polyps, first described in 1955.Cutis verticis gyrataRare scalp condition with cerebriform ridges and furrows.Diffuse panbronchiolitisSevere progressive bronchiolitis of unknown cause, mainly in East Asians.Primary familial brain calcificationRare inherited disorder with brain calcium deposits and progressive symptoms.Fazio–Londe diseaseRare childhood motor neuron disease of unknown genetic cause.FibrochondrogenesisRare lethal osteochondrodysplasia with fibrous cartilage development.Flynn–Aird syndromeRare hereditary neurological syndrome with dominant inheritance.Fountain syndromeA rare congenital disorder with intellectual disability, deafness, and facial swelling.Galloway–Mowat syndromeRare genetic disorder with hiatal hernia, microcephaly, and nephrotic syndrome.GAPO syndromeRare autosomal recessive disorder causing growth retardation and premature aging.GastroschisisBirth defect where intestines protrude through a hole near the navel.Gray platelet syndromeRare congenital bleeding disorder with gray, agranular platelets.Hemoglobin Lepore syndromeA hemoglobinopathy caused by delta-beta globin gene fusion.Hereditary mucoepithelial dysplasiaRare autosomal dominant disorder affecting multiple epithelial systems.Howel–Evans syndromeRare genetic syndrome linking palmoplantar keratoderma to esophageal cancer risk.Incontinentia pigmenti achromiansA cutaneous condition with hypopigmentation along Blaschko's lines.Kapur–Toriello syndromeRare genetic disorder with abnormal nasal columella.Kaufman oculocerebrofacial syndromeRare autosomal recessive disorder with intellectual disability and eye abnormalities.Keratolytic winter erythemaRare winter-triggered skin disorder first described in Oudtshoorn, South Africa.Laurence–Moon syndromeRare autosomal recessive disorder with retinal, neurological, and developmental features.
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