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6 OMIM references -
10 associated genes
107 connected diseases
8 signs/symptoms
Disease Type of connection
Autosomal recessive hypohidrotic ectodermal dysplasia
Kallmann syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Normosmic congenital hypogonadotropic hypogonadism
Giant cell glioblastoma
X-linked hypohidrotic ectodermal dysplasia
Hypodontia - dysplasia of nails
Autosomal dominant popliteal pterygium syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Myeloid neoplasm associated with FGFR1 rearrangement
Odonto-onycho-dermal dysplasia
Oligodontia - cancer predisposition syndrome
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Schöpf-Schulz-Passarge syndrome
Septo-optic dysplasia
Van der Woude syndrome
Desmoid tumor
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Autosomal dominant nonsyndromic intellectual deficit
Hepatocellular carcinoma, childhood-onset
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Spinocerebellar ataxia type 17
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Autosomal agammaglobulinemia
SHORT syndrome
Craniosynostosis, Boston type
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Coffin-Lowry syndrome
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Romano-Ward syndrome
Split hand - split foot - deafness
X-linked non-syndromic intellectual deficit
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Primary biliary cirrhosis
Adrenocortical carcinoma
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
APC-related attenuated familial adenomatous polyposis
Alternating hemiplegia of childhood
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Benign paroxysmal torticollis of infancy
Budd-Chiari syndrome
Distal myopathy with posterior leg and anterior hand involvement
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial gastric cancer
Familial isolated dilated cardiomyopathy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Familial thrombocytosis
Gardner syndrome
Gastric linitis plastica
Hypercalcemic tumoral calcinosis
Leber congenital amaurosis
Lethal congenital contracture syndrome type 2
Muscle filaminopathy
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Spinocerebellar ataxia type 6
Turcot syndrome with polyposis
X-linked dystonia-parkinsonism
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Nodulosis-arthropathy-osteolysis syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Torg-Winchester syndrome
Amyotrophic lateral sclerosis
Autosomal dominant severe congenital neutropenia
Camurati-Engelmann disease
Cyclic neutropenia
Cystic fibrosis
Deafness with labyrinthine aplasia, microtia, and microdontia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial thoracic aortic aneurysm and aortic dissection
Hereditary gingival fibromatosis
Neonatal inflammatory skin and bowel disease
Noonan syndrome
Oculootodental syndrome
Otodental syndrome
Peters anomaly
Reticulate acropigmentation of Kitamura
Autosomal recessive lymphoproliferative disease
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
- Selective tooth agenesis

Classification (Orphanet):
- Rare genetic disease
- Rare odontologic disease

Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
No MeSH references

Very frequent
- Anodontia / oligodontia / hypodontia
- Complete / partial microdontia
- Face / facial anomalies
- Hypoplastic mandibula / partial absence of the mandibula
- Tooth shape anomaly

- Autosomal dominant inheritance
- Autosomal recessive inheritance
- X-linked recessive inheritance