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14q22q23 microdeletion syndrome
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
Diaphanospondylodysostosis
1 OMIM reference -
1 associated gene
11 signs/symptoms
14q22q23 microdeletion syndrome
Diaphanospondylodysostosis

BMP4
(UniProt - OMIM)
 BMPER
(UniProt - OMIM)
SIX6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BMP4
(0.52)
BMPER


Citations in the biomedical literature:


14q22q23 microdeletion syndrome
BMP4 SIX6
Diaphanospondylodysostosis
BMPER



14q22q23 microdeletion syndrome
Diaphanospondylodysostosis

Synonym(s):
- 14q22-q23 microdeletion syndrome
- Del(14)(q22q23)
- Monosomy 14q22-q23
- Monosomy 14q22q23
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
14q22q23 microdeletion syndrome
Diaphanospondylodysostosis

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Downturned mouth
- External auditory canal atresia / stenosis / agenesis
- External ear anomalies
- High forehead
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Brachycephaly / flat occiput
- Corpus callosum / septum pellucidum total / partial agenesis
- Diabetes insipidus
- Dilated cerebral ventricles without hydrocephaly
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Thin / hypoplastic ala nasi

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Clinodactyly of fifth finger
- Cortico-adrenal hypoplasia / insufficiency
- Delayed bone age
- Fetal immobility / abnormal fetal movements
- Hearing loss / hypoacusia / deafness
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Simian crease / transverse / unique palmar crease
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes


Very frequent
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Myelomeningocele
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Polycystic kidneys
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib number anomalies
- Short neck
- Short rib cage / thorax
- Stillbirth / neonatal death
- Vertebral segmentation anomaly / hemivertebrae