Chromosome 2p16.1-p15 deletion syndrome

Preferred Label : Chromosome 2p16.1-p15 deletion syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Isolated cases;

Molecular basis : A contiguous gene deletion syndrome caused by a deletion (3.9 Mb) of chromosome 2p16.1-p15;

Prefixed ID : #612513;

Détails

Origin ID

612513;

UMLS CUI

C2675875;

Currated CISMeF NLP mapping
- 2p15p16.1 deletion [ICD-11 More detail]
- 2p15p16.1 microdeletion syndrome [ORDO Disease]
- 2p15p16.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 2p16.1-P15 deletion syndrome [MeSH concept]
- chromosome 2p16.1-P15 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2p16.1-p15 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 2p16.1-p15 deletion syndrome [DO Concept]
HPO term(s)
- Arachnodactyly [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Bitemporal narrowing [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Broad nasal root [HPO term]
- Calcaneovalgus deformity [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Cortical dysplasia [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hydronephrosis [HPO term]
- Hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the pons [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint contracture of the hand [HPO term]
- Kyphoscoliosis [HPO term]
- Laryngomalacia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Narrow forehead [HPO term]
- Nasal speech [HPO term]
- Optic nerve hypoplasia [HPO term]
- Pachygyria [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal tip [HPO term]
- Ptosis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Retrognathia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 2p15p16.1 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2p15p16.1 microdeletion syndrome [ORDO Disease]
- chromosome 2p16.1-P15 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2p16.1-P15 deletion syndrome [MeSH concept]
- chromosome 2p16.1-p15 deletion syndrome [DO Concept]

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