Table 4.

Disorders with Congenital Microcephaly to Consider in the Differential Diagnosis of WDR62 Primary Microcephaly

Disorder / PhenotypeGene(s) /
Genetic Mechanism		MOIClinical Features of Disorder Distinguishing from WDR62-MCPH 1OMIM
MCPHANKLE2
ASPM
CDK5RAP2
CDK6
CENPE
CPAP (CENPJ)
CEP135
CEP152
CIT
COPB2
KIF14
KNL1
MAP11
MCPH1
MFSD2A
NCAPD2
NCAPD3
NCAPH
NUP37
PHC1
SASS6
STIL
WDFY3
ZNF335		AR
(AD) 2
  • ANKLE2-, CPAP-, CEP152-, KIF14-, NCAPD2-, PHC-, & ZNF335-MCPH: May present w/IUGR (Seckel-like)
  • MFSD2A-MCPH: May have hydrocephalus
  • STIL-MCPH: May have holoprosencephaly
  • ZNF335-MCPH: Early lethality
 PS251200
Periventricular heterotopia w/microcephaly ARFGEF2 ARPVNH 608097
Microcephaly, short stature, & polymicrogyria ± seizure RTTN ARShort stature, polymicrogyria, severe ID 614833
Malformations of cortical development (See Congenital Fibrosis of the Extraocular Muscles & Tubulinopathies Overview.) CTNNA2
KIF2A
KIF5C
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBG1 		AD
(AR) 3		Lissencephaly & polymicrogyria; fusion between caudate & putamen nuclei w/indistinct anterior arm of internal capsule; neonatal seizures PS614039
Baraitser-Winter cerebrofrontofacial syndrome ACTB
ACTG1 		ADPachygyria; lissencephaly; hypertelorism, broad nose w/large tip & prominent root, coloboma; normocephaly 243310
614583
Microcephaly & polymicrogyria EOMES ARMicrocephaly & polymicrogyria 604615
RAB18 deficiency (Warburg micro syndrome, Martsolf syndrome) RAB3GAP1
RAB3GAP2
RAB18
TBC1D20 		ARMicrophthalmia, microcornea, congenital cataracts, optic atrophy; polymicrogyria; spastic diplegia; hypogonadism; severe ID 600118
614222
614225
Microcephaly & chorioretinopathy (MCCRP) PLK4
TUBGCP4
TUBGCP6 		AR
  • Chorioretinopathy (inconstant)
  • PLK4-MCCRP: IUGR (Seckel-like)
 PS251270
Microcephaly ± chorioretinopathy, lymphedema, or ID KIF11 ADChorioretinopathy & lymphoedema (inconstant); ID uncommon 152950
Polymicrogyria bilateral frontoparietalADGRG1 (GPR56)ARBilateral frontal or perisylvian polymicrogyrie; cobblestone-like lissencephaly; normocephaly 606854
Lissencephaly 6 w/microcephaly KATNB1 ARMicrolissencephaly & pachygyria 616212
Asparagine synthetase deficiency ASNS AR 615574
Serine biosynthesis defects PHGDH
PSAT1
PSPH 		ARNeonatal seizures 601815
610992
614023

AD = autosomal dominant; AR = autosomal recessive; ID = intellectual disability; IUGR = intrauterine growth restriction; MCPH = microcephaly, primary hereditary; MOI = mode of inheritance; PS = phenotypic series; PVNH = periventricular nodular heterotopia

1.

Disorders are associated with intellectual disability unless otherwise noted.

2.

MCPH associated with the listed genes is inherited in an autosomal recessive manner with the exception of WDFY3-MCPH, which is inherited in an autosomal dominant manner.

3.

Cortical dysplasia, complex, with other brain malformations (CDCBM) associated with the listed genes is inherited in an autosomal dominant manner with the exception of CTNNA2- and TUBA8-related CDCBM, which are inherited in an autosomal recessive manner.

From: WDR62 Primary Microcephaly

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