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FG syndrome type 1
1 OMIM reference -
1 associated gene
56 connected diseases
No signs/symptoms info
Disease Type of connection
Blepharophimosis-intellectual deficit syndrome, MKB type
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Hypocalcemic vitamin D-resistant rickets
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Campomelic dysplasia
Amyotrophic lateral sclerosis
Estrogen resistance syndrome
Peripheral resistance to thyroid hormones
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Charcot-Marie-Tooth disease type 2B2
Familial thoracic aortic aneurysm and aortic dissection
Hereditary nonpolyposis colon cancer
Loeys-Dietz syndrome type 1
Marfan syndrome type 2
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Attenuated Chédiak-Higashi syndrome
Chédiak-Higashi syndrome
Autosomal dominant secondary polycythemia
Autosomal recessive nonsyndromic intellectual deficit
Bannayan-Riley-Ruvalcaba syndrome
Congenital bilateral absence of vas deferens
Cowden syndrome
Cystic fibrosis
Hereditary breast and ovarian cancer syndrome
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Idiopathic pulmonary fibrosis
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Male infertility with normal virilization due to meiosis defect
Multiple paragangliomas associated with polycythemia
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Squamous cell carcinoma of head and neck
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Opitz-Kaveggia syndrome
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MED12 Q93074300188
No signs/symptoms info available.