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Premature chromosome condensation with microcephaly and intellectual deficit
1 OMIM reference -
1 associated gene
24 connected diseases
14 signs/symptoms
Disease Type of connection
Autosomal recessive primary microcephaly
Hereditary breast and ovarian cancer syndrome
Coffin-Siris syndrome
Familial rhabdoid tumor
Familial prostate cancer
Familial congenital mirror movements
Familial pancreatic carcinoma
Fanconi anemia
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Atypical teratoid tumor
Familial multiple meningioma
Neurofibromatosis type 3
Dubin-Johnson syndrome
Intellectual deficit - sparse hair - brachydactyly
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Mantle cell lymphoma
Nijmegen breakage syndrome
Seckel syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MCPH1 Q8NEM0607117
Very frequent
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism
- Sloping forehead
- Thin / retracted lips

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical anomaly / thick bone cortical layer
- Dilated cerebral ventricles without hydrocephaly
- Hypereflexia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter