×
Entrez Id:
259266
Gene Symbol:
ASPM
ASPM
Autosomal Recessive Primary Microcephaly
0.700
GermlineCausalMutation
ORPHANET
CDK5RAP2
Autosomal Recessive Primary Microcephaly
0.690
GermlineCausalMutation
ORPHANET
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
Autosomal Recessive Primary Microcephaly
0.500
GermlineCausalMutation
ORPHANET
×
Entrez Id:
6491
Gene Symbol:
STIL
STIL
Autosomal Recessive Primary Microcephaly
0.440
GermlineCausalMutation
ORPHANET
×
Entrez Id:
55835
Gene Symbol:
CENPJ
CENPJ
Autosomal Recessive Primary Microcephaly
0.430
GermlineCausalMutation
ORPHANET
×
Entrez Id:
11113
Gene Symbol:
CIT
CIT
Autosomal Recessive Primary Microcephaly
0.400
GermlineCausalMutation
ORPHANET
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
27453578
2016
×
Entrez Id:
284403
Gene Symbol:
WDR62
WDR62
Autosomal Recessive Primary Microcephaly
0.400
GermlineCausalMutation
ORPHANET
×
Entrez Id:
163786
Gene Symbol:
SASS6
SASS6
Autosomal Recessive Primary Microcephaly
0.320
GermlineCausalMutation
ORPHANET
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
24951542
2014
×
Entrez Id:
22995
Gene Symbol:
CEP152
CEP152
Autosomal Recessive Primary Microcephaly
0.320
GermlineCausalMutation
ORPHANET
×
Entrez Id:
57082
Gene Symbol:
KNL1
KNL1
Autosomal Recessive Primary Microcephaly
0.320
GermlineCausalMutation
ORPHANET
×
Entrez Id:
55262
Gene Symbol:
MAP11
MAP11
Autosomal Recessive Primary Microcephaly
0.310
GermlineCausalMutation
ORPHANET
Through genome-wide linkage analysis combined with whole exome sequencing, we demonstrate that human autosomal recessive primary microcephaly is caused by a truncating mutation in MAP11 .
30715179
2019
×
Entrez Id:
9928
Gene Symbol:
KIF14
KIF14
Autosomal Recessive Primary Microcephaly
0.310
GermlineCausalMutation
ORPHANET
We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu88*, c.2480_2482delTTG; p.Val827del, and c.4071G>A;p.Gln1357=) as the likely cause in 3 MCPH families.
28892560
2017
×
Entrez Id:
23141
Gene Symbol:
ANKLE2
ANKLE2
Autosomal Recessive Primary Microcephaly
0.310
GermlineCausalMutation
ORPHANET
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
25259927
2014
×
Entrez Id:
1021
Gene Symbol:
CDK6
CDK6
Autosomal Recessive Primary Microcephaly
0.310
GermlineCausalMutation
ORPHANET
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
23918663
2013
×
Entrez Id:
9662
Gene Symbol:
CEP135
CEP135
Autosomal Recessive Primary Microcephaly
0.310
GermlineCausalMutation
ORPHANET
×
Entrez Id:
80254
Gene Symbol:
CEP63
CEP63
Autosomal Recessive Primary Microcephaly
0.310
GermlineCausalMutation
ORPHANET
×
Entrez Id:
29920
Gene Symbol:
PYCR2
PYCR2
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
27860360
2017
×
Entrez Id:
6884
Gene Symbol:
TAF13
TAF13
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
28257693
2017
×
Entrez Id:
9276
Gene Symbol:
COPB2
COPB2
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
29036432
2017
×
Entrez Id:
23310
Gene Symbol:
NCAPD3
NCAPD3
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
27737959
2016
×
Entrez Id:
84879
Gene Symbol:
MFSD2A
MFSD2A
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
26005868
2015
×
Entrez Id:
84879
Gene Symbol:
MFSD2A
MFSD2A
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
26005865
2015
×
Entrez Id:
1911
Gene Symbol:
PHC1
PHC1
Autosomal Recessive Primary Microcephaly
0.300
GermlineCausalMutation
ORPHANET