Fallot complex-intellectual disability-growth delay syndrome

Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.



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Total: 0 (papers)

  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 33

HPO ID Term Frequency
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0001525 Severe failure to thrive Very frequent (99-80%)
HP:0002187 Intellectual disability, profound Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000954 Single transverse palmar crease Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0001636 Tetralogy of Fallot Frequent (79-30%)
HP:0001642 Pulmonic stenosis Frequent (79-30%)
HP:0001719 Double outlet right ventricle Frequent (79-30%)
HP:0004691 2-3 toe syndactyly Frequent (79-30%)
HP:0011335 Frontal hirsutism Frequent (79-30%)
HP:0011344 Severe global developmental delay Frequent (79-30%)
HP:0000219 Thin upper lip vermilion Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0000403 Recurrent otitis media Occasional (29-5%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000961 Cyanosis Occasional (29-5%)
HP:0001276 Hypertonia Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002179 Opisthotonus Occasional (29-5%)
HP:0002623 Overriding aorta Occasional (29-5%)
HP:0005278 Hypoplastic nasal tip Occasional (29-5%)
HP:0005301 Persistent left superior vena cava Occasional (29-5%)
HP:0007687 Unilateral ptosis Occasional (29-5%)
HP:0100759 Clubbing of fingers Occasional (29-5%)
HP:0100760 Clubbing of toes Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID