1q41q42 microdeletion syndrome

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(32.1%)		 24357076
 Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.
Am J Med Genet A. 2014;164A(2):441-8.
Intellectual disability Cleft lip
FBXO28
rs1553292987
Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Facies Females Fluorescent in Situ Hybridization Homo sapiens Infant Infant, Newborn Intellectual Disability SKP Cullin F-Box Protein Ligases Seizures Syndrome
2
(4.0%)		 23542665
 Clinical characterization of DISP1 haploinsufficiency: A case report.
Jun KR, Hur YJ, Lee JN, Kim HR, Shin JH, Oh SH, Lee JY, Seo EJ.
Eur J Med Genet. 2013;56(6):309-13.
Seizure
DISP1 TLR5
Chromosome Deletion Chromosomes, Human, Pair 1 Developmental Disabilities Females Haploinsufficiency Homo sapiens Infant
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000271 Abnormality of the face 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:0001319 Neonatal hypotonia Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0001792 Small nail Frequent (79-30%)
HP:0002011 Morphological abnormality of the central nervous system Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0012471 Thick vermilion border Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000078 Abnormality of the genital system Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000176 Submucous cleft hard palate Occasional (29-5%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000525 Abnormality iris morphology Occasional (29-5%)
HP:0000601 Hypotelorism Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0000815 Hypergonadotropic hypogonadism Occasional (29-5%)
HP:0001360 Holoprosencephaly Occasional (29-5%)
HP:0002089 Pulmonary hypoplasia Occasional (29-5%)
HP:0011447 Hyposegmentation of neutrophil nuclei Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001249 Intellectual disability 1
HP:0001250 Seizures 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID