Monosomy 9q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 19320658
 Clinical features of microdeletion 9q22.3 (pat).
Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T.
Clin Genet. 2009;75(4):384-93.
Hemangioma
PTCH1
Basal Cell Nevus Syndrome Chromosome Deletion Chromosomes, Human, Pair 9 Developmental Disabilities Females Genomic Imprinting Homo sapiens Infant, Newborn Patched Receptors Patched-1 Receptor Receptors, Cell Surface
        

Phenotype(s) retrieved from Orphanet

    Total: 46

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000202 Oral cleft Very frequent (99-80%)
HP:0000243 Trigonocephaly Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000488 Retinopathy Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000752 Hyperactivity Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000925 Abnormality of the vertebral column 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:0001520 Large for gestational age Very frequent (99-80%)
HP:0001537 Umbilical hernia Very frequent (99-80%)
HP:0002671 Basal cell carcinoma Very frequent (99-80%)
HP:0002885 Medulloblastoma Very frequent (99-80%)
HP:0005462 Calcification of falx cerebri Very frequent (99-80%)
HP:0010603 Odontogenic keratocysts of the jaw Very frequent (99-80%)
HP:0010610 Palmar pits Very frequent (99-80%)
HP:0010612 Plantar pits Very frequent (99-80%)
HP:0010617 Cardiac fibroma Very frequent (99-80%)
HP:0010618 Ovarian fibroma Very frequent (99-80%)
HP:0011330 Metopic synostosis Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002308 Arnold-Chiari malformation Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0005616 Accelerated skeletal maturation Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0009894 Thickened ears Frequent (79-30%)
HP:0010442 Polydactyly Frequent (79-30%)
HP:0002667 Nephroblastoma Occasional (29-5%)
HP:0002859 Rhabdomyosarcoma Occasional (29-5%)


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
PTCH1 patched 1 5727