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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
137 connected diseases
No signs/symptoms info
Disease Type of connection
Seckel syndrome
Precursor T-cell acute lymphoblastic leukemia
Premature chromosome condensation with microcephaly and intellectual deficit
Familial melanoma
Multiple endocrine neoplasia type 1
Acute promyelocytic leukemia
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Hereditary breast and ovarian cancer syndrome
Burkitt lymphoma
Coffin-Siris syndrome
Mosaic variegated aneuploidy syndrome
Mantle cell lymphoma
Cornelia de Lange syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Familial multiple meningioma
Familial rhabdoid tumor
Familial prostate cancer
Multiple myeloma
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Multiple endocrine neoplasia type 4
2p21 microdeletion syndrome
Familial congenital mirror movements
Fanconi anemia
Gray platelet syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Laron syndrome with immunodeficiency
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Spinocerebellar ataxia type 17
Angelman syndrome
Diffuse cutaneous systemic sclerosis
Lennox-Gastaut syndrome
Limited cutaneous systemic sclerosis
Parkinsonian-pyramidal syndrome
Primary biliary cirrhosis
12p12.1 microdeletion syndrome
5p13 microduplication syndrome
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 4F
Dejerine-Sottas syndrome
Developmental and speech delay due to SOX5 deficiency
Ear-patella-short stature syndrome
Fuchs endothelial corneal dystrophy
Genetic recurrent myoglobinuria
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Kallmann syndrome
Microcephalic primordial dwarfism due to ZNF335 deficiency
Myxoid / round cell liposarcoma
Neurologic Waardenburg-Shah syndrome
Posterior polymorphous corneal dystrophy
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Weaver syndrome
Atypical teratoid tumor
Neurofibromatosis type 3
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
17q11 microdeletion syndrome
46,XY complete gonadal dysgenesis
ADULT syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Adrenocortical carcinoma
Ankyloblepharon - ectodermal defects - cleft lip / palate
Anophthalmia / microphthalmia - esophageal atresia
Attenuated Chédiak-Higashi syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive chorioretinopathy-microcephaly
Autosomal recessive myogenic arthrogryposis multiplex congenita
Bladder exstrophy
Charcot-Marie-Tooth disease type 1F
Chédiak-Higashi syndrome
Colobomatous microphthalmia
Dehydratase deficiency
Dentatorubral pallidoluysian atrophy
Dubin-Johnson syndrome
EEC syndrome
Early infantile epileptic encephalopathy
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Essential thrombocythemia
Giant cell glioblastoma
Heritable pulmonary arterial hypertension
Huntington disease
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Intellectual deficit - sparse hair - brachydactyly
Isolated anophthalmia - microphthalmia
Juvenile Huntington disease
LIG4 syndrome
Li-Fraumeni syndrome
Limb-mammary syndrome
Microcephalic osteodysplastic primordial dwarfism type 2
Omenn syndrome
Papilloma of choroid plexus
Pseudohypoaldosteronism type 2E
Romano-Ward syndrome
Septo-optic dysplasia
Severe early-onset axonal neuropathy due to NEFL deficiency
Spinocerebellar ataxia type 1
Split hand-split foot malformation
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Young adult-onset Parkinsonism
Autosomal dominant nonsyndromic intellectual deficit
Complete androgen insensitivity syndrome
Desmoid tumor
Familial hypospadias
Hepatocellular carcinoma, childhood-onset
Kennedy disease
Partial androgen insensitivity syndrome
Ataxia-telangiectasia variant
Combined cervical dystonia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Nijmegen breakage syndrome
Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2C
- Microcephalia vera
- Microcephaly vera
- True microcephaly

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

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
External references:
11 OMIM references -
No MeSH references

No signs/symptoms info available.