Megalocornea-intellectual disability syndrome

Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 12503196
 Megalocornea-mental retardation syndrome: an additional case report.
Naritomi K, Chinen Y, Tohma T.
Jpn J Hum Genet. 1997;42(3):461-5.
Micrognathia Frontal bossing
Cornea Homo sapiens Infant Intellectual Disability Male Syndrome
2
(39.0%)		 8484397
 Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.
Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F.
Am J Med Genet. 1993;46(2):132-7.
Macrocephaly
Child Child, Preschool Cornea Homo sapiens Infant Intellectual Disability Male Phenotype Syndrome
3
(4.0%)		 7802008
 Megalocornea-mental retardation syndrome: an additional case.
Antinolo G, Rufo M, Borrego S, Morales C.
Am J Med Genet. 1994;52(2):196-7.
Megalocornea
Cornea Eye Abnormalities Face Genes, Recessive Homo sapiens Infant, Newborn Intellectual Disability Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000485 Megalocornea Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)
HP:0000194 Open mouth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000593 Abnormal anterior chamber morphology Frequent (79-30%)
HP:0000733 Stereotypy Frequent (79-30%)
HP:0001182 Tapered finger Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0002970 Genu varum Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0007676 Hypoplasia of the iris Frequent (79-30%)
HP:0010508 Metatarsus valgus Frequent (79-30%)
HP:0100693 Iridodonesis Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000411 Protruding ear Occasional (29-5%)
HP:0000483 Astigmatism Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000938 Osteopenia Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0002353 EEG abnormality Occasional (29-5%)
HP:0003124 Hypercholesterolemia Occasional (29-5%)
HP:0009891 Underdeveloped supraorbital ridges Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000485 Megalocornea 3


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID