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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
52 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
2q37 microdeletion syndrome

CACNG2 HDAC4
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.63)
HDAC4



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
2q37 microdeletion syndrome
HDAC4



Autosomal dominant nonsyndromic intellectual deficit
2q37 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Albright hereditary osteodystrophy 3
- Albright hereditary osteodystrophy-like syndrome
- Brachydactyly-intellectual deficit
- Del(2)(q37)
- Deletion 2q37
- Deletion 2q37-qter
- Monosomy 2q37-qter

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

External references:
13 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538317

2q37 microdeletion syndrome

Very frequent
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface
- Round face

Frequent
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Downturned mouth
- Eczema
- Frontal bossing / prominent forehead
- Generalized obesity
- High arched eyebrows
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Small foot
- Small hand / acromicria
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi
- Thin / retracted lips
- Umbilical hernia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Autism / autistic disoders
- Conductive deafness / hearing loss
- Diaphragmatic hernia / defect / agenesis
- Gastric / pyloric stenosis
- Hyperactivity / attention deficit
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Laryngomalacia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Multicystic kidney / renal dysplasia
- Nephroblastoma / Wilms tumor
- Obsessive-compulsive disorder
- Short neck
- Sleep and vigilance disorders
- Tics / stereotypias
- Tracheomalacia / tracheobronchomalacia


Autosomal dominant nonsyndromic intellectual deficit

(no data available)