Microcephaly-seizures-intellectual disability-heart disease syndrome

A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.



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

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000054 Micropenis Very frequent (99-80%)
HP:0000851 Congenital hypothyroidism Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001631 Atrial septal defect Very frequent (99-80%)
HP:0006934 Congenital nystagmus Very frequent (99-80%)
HP:0008947 Infantile muscular hypotonia Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000565 Esotropia Frequent (79-30%)
HP:0000766 Abnormality of the sternum Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000773 Short ribs Frequent (79-30%)
HP:0000885 Broad ribs Frequent (79-30%)
HP:0001162 Postaxial hand polydactyly Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0002079 Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0002092 Pulmonary arterial hypertension Frequent (79-30%)
HP:0002098 Respiratory distress Frequent (79-30%)
HP:0002558 Supernumerary nipple Frequent (79-30%)
HP:0005989 Redundant neck skin Frequent (79-30%)


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