List of diseases covered by Microcephaly NGS panel
| Gene | Condition |
| ANKLE2 | Microcephaly 16, primary |
| AP4M1 | Spastic paraplegia 50, autosomal recessive |
| ASNS | Asparagine synthetase deficiency |
| ASPM | Microcephaly 5, primary, autosomal recessive |
| ATM | Ataxia-telangiectasia |
| ATR | Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial |
| CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus |
| CDC45 | Meier-Gorlin syndrome 7 |
| CDC6 | Meier-Gorlin syndrome 5 |
| CDK6 | Microcephaly 12, primary |
| CDK5RAP2 | Microcephaly 3, primary, autosomal recessive |
| CDT1 | Meier-Gorlin syndrome 4 |
| CENPE | Microcephaly 13, primary |
| CENPJ | Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 |
| CEP63 | Seckel syndrome 6 |
| CEP135 | Microcephaly 8, primary, autosomal recessive |
| CEP152 | Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 |
| CHD7 | CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia |
| CIT | Microcephaly 17, primary |
| COPB1 | Microcephaly 19, primary |
| CREBBP | Rubinstein-Taybi syndrome 1; Menke-Hennekam syndrome 1 |
| CTNNA2 | Cortical dysplasia, complex, with other brain malformations 9 |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| DHTKD1 | 2-aminoadipic 2-oxoadipic aciduria |
| DNA2 | Seckel syndrome 8; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 |
| DONSON | Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities |
| DYRK1A | Mental retardation, 7 |
| EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type |
| EP300 | Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2 |
| ERCC6 | Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome, type B; De Sanctis-Cacchione syndrome |
| EXOSC3 | Pontocerebellar hypoplasia, type 1B |
| FBXO11 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities |
| GMNN | Meier-Gorlin syndrome 6 |
| GSX2 | Diencephalic-mesencephalic junction dysplasia syndrome 2 |
| HDAC8 | Cornelia de Lange syndrome 5; |
| IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| KIF14 | Microcephaly 20, primary |
| KIF2A | Cortical dysplasia, complex, with other brain malformations 3 |
| KIFBP | Goldberg-Shprintzen megacolon syndrome |
| KIF5C | Cortical dysplasia, complex, with other brain malformations 2 |
| KMT2A | Wiedemann-Steiner syndrome |
| KNL1 | Microcephaly 4, primary, autosomal recessive |
| LAGE3 | Galloway-Mowat syndrome 2 |
| LIG4 | LIG4 syndrome |
| MCM5 | Meier-Gorlin syndrome 8 |
| MCPH1 | Microcephaly 1, primary, autosomal recessive |
| MFSD2A | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities |
| NACC1 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination |
| NBN | Nijmegen breakage syndrome; Leukemia, acute lymphoblastic; Aplastic anemia |
| NCAPD2 | Microcephaly 21, primary |
| NCAPD3 | Microcephaly 22, primary |
| NCAPH | Microcephaly 23, primary |
| NDE1 | Microhydranencephaly; Lissencephaly 4 (with microcephaly) |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| NIN | Seckel syndrome 7 |
| NSMCE2 | Seckel syndrome 10 |
| NUP107 | Galloway-Mowat syndrome 7 |
| NUP133 | Galloway-Mowat syndrome 8 |
| NUP37 | Microcephaly 24, primary |
| ORC1 | Meier-Gorlin syndrome 1 |
| ORC4 | Meier-Gorlin syndrome 2 |
| ORC6 | Meier-Gorlin syndrome 3 |
| OSGEP | Galloway-Mowat syndrome 3 |
| PAFAH1B1 | Lissencephaly 1 |
| PCDH12 | Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II |
| PHC1 | Microcephaly 11, primary |
| PHGDH | Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency |
| PLK4 | Microcephaly and chorioretinopathy, 2 |
| PNKP | Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia 4 |
| POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
| PSAT1 | Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 |
| PSPH | Phosphoserine phosphatase deficiency |
| RAD50 | Nijmegen breakage syndrome-like disorder |
| RBBP8 | Jawad syndrome; Seckel syndrome 2 |
| RTTN | Microcephaly, short stature, and polymicrogyria with seizures |
| SASS6 | Microcephaly 14, primary |
| SLC25A19 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 |
| SLC9A6 | Mental retardation, X-linked syndromic, Christianson type |
| STAMBP | Microcephaly-capillary malformation syndrome |
| STIL | Microcephaly 7, primary, autosomal recessive |
| ZEB2 | Mowat-Wilson syndrome |
| ZNF335 | Microcephaly 10, primary |
| TP53RK | Galloway-Mowat syndrome 4 |
| TPRKB | Galloway-Mowat syndrome 5 |
| TRAIP | Seckel syndrome 9 |
| TRAPPC9 | Mental retardation, 13 |
| TRMT10A | Microcephaly, short stature, and impaired glucose metabolism 1 |
| TUBA8 | Cortical dysplasia, complex, with other brain malformations 8 |
| TUBB | Cortical dysplasia, complex, with other brain malformations 6; Symmetric circumferential skin creases, congenital, 1 |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations 1; Fibrosis of extraocular muscles, congenital, 3A |
| TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 |
| TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 |
| TUBG1 | Cortical dysplasia, complex, with other brain malformations 4 |
| TUBGCP4 | Microcephaly and chorioretinopathy, 3 |
| TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| WDFY3 | Microcephaly 18, primary |
| WDR4 | Galloway-Mowat syndrome 6 |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
| WDR73 | Galloway-Mowat syndrome 1 (spinocerebellar ataxia, autosomal recessive 5) |
| XRCC4 | Short stature, microcephaly, and endocrine dysfunction |