14q12 microdeletion syndrome

14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 2294952
 [Two siblings with interstitial deletion of chromosome 14 [46 XX, del (14) (q12 q13.3)]].
Kodama M, Kai Y, Sugino S, Inokuchi N, Miike T.
No To Hattatsu. 1990;22(1):61-5.
Round face Micrognathia
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 14 Females Homo sapiens Infant Intellectual Disability
2
(30.8%)		 19303466
 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.
Eur J Med Genet. 2009;52(2-3):148-52.
Downslanted palpebral fissures
FOXG1
Chromosome Deletion Chromosomes, Human, Pair 14 Face Females Forkhead Transcription Factors Homo sapiens Infant Nerve Tissue Proteins Rett Syndrome Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000232 Everted lower lip vermilion Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000733 Stereotypy Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001344 Absent speech Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0010804 Tented upper lip vermilion Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0000158 Macroglossia Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0003781 Excessive salivation Frequent (79-30%)
HP:0005487 Prominent metopic ridge Frequent (79-30%)
HP:0100540 Palpebral edema Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FOXG1 forkhead box G1 2290