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Bohring-Opitz syndrome
1 OMIM reference -
1 associated gene
52 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
1 OMIM reference -
1 associated gene
13 signs/symptoms
Bohring-Opitz syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

ASXL1
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ASXL1
(0.56)
APP


Citations in the biomedical literature:


Bohring-Opitz syndrome
ASXL1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Bohring-Opitz syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- BOS syndrome
- Bohring syndrome
- C-like syndrome
- Oberklaid-Danks syndrome
- Opitz trigonocephaly-like syndrome
Synonym(s):
- HCHWA, Piedmont type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Intellectual deficit / mental / psychomotor retardation / learning disability

Bohring-Opitz syndrome
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Beaked nose
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Camptodactyly of fingers
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coarse / thick hair
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat supraorbital ridge
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow forehead
- Proptosis / exophthalmos
- Restricted joint mobility / joint stiffness / ankylosis
- Trigonocephaly
- Ulnar deviation of fingers
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormally placed nipples
- Anomalies of spine, vertebrae and pelvis
- Anterior chamber anomaly
- Cleft lip
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypertelorism
- Intestinal / gut / bowel malrotation
- Narrow rib cage / thorax
- Oral synechiae / abnormal frenulae
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short rib cage / thorax
- Strabismus / squint
- Structural anomalies of the pancreas
- Supernumerary nipples / polythelia
- Synophris / synophrys

Occasional
- Dandy-Walker anomaly
- Hearing loss / hypoacusia / deafness
- Inguinal / inguinoscrotal / crural hernia
- Myopia
- Polyhydramnios
- Renal / kidney anomalies
- Small foot
- Talipes-varus / metatarsal varus


Very frequent
- Autosomal dominant inheritance
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality