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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Microcephalic osteodysplastic primordial dwarfism type 2
1 OMIM reference -
1 associated gene
50 signs/symptoms
Autosomal recessive primary microcephaly
Microcephalic osteodysplastic primordial dwarfism type 2

ASPM
(UniProt - OMIM)
 PCNT
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
CDK6
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP135
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
CEP63
(UniProt - OMIM)
MCPH1
(UniProt - OMIM)
PHC1
(UniProt - OMIM)
STIL
(UniProt - OMIM)
WDR62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDK5RAP2
(0.63)
PCNT


Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Microcephalic osteodysplastic primordial dwarfism type 2
PCNT



Autosomal recessive primary microcephaly
Microcephalic osteodysplastic primordial dwarfism type 2

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- MOPD type II
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Microcephalic osteodysplastic primordial dwarfism type 2

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Delayed bone age
- Epiphyseal anomaly
- Fine hair
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intrauterine growth retardation
- Long / large / bulbous nose
- Metaphyseal anomaly
- Microcephaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe

Frequent
- Absent / decreased / thin eyebrows
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Cafe-au-lait spot
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Complete / partial microdontia
- Dry / squaly skin / exfoliation
- Hyperextensible joints / articular hyperlaxity
- Irregular / patchy skin hypopigmentation
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Sensorineural deafness / hearing loss
- Thin / hypoplastic ala nasi
- Truncal obesity

Occasional
- Anaemia
- Arterial aneurism (excluding aorta)
- Arterial stenosis / occlusion
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Cerebral vascular anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperactivity / attention deficit
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Patent ductus arteriosus
- Precocious puberty
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tracheal atresia / stenosis
- Transient cerebral ischemia / stroke


Autosomal recessive primary microcephaly

(no data available)