Group 2 Conditions
Parents can also choose to have their baby screened for an additional 100 conditions (Group 2). There are no medicines to treat for these conditions yet. Medicines may be in development, although we don’t know how well they will work. Early diagnosis of these conditions can support you and your child with early intervention services including physical therapy, occupational therapy, and speech therapy. It may also allow your child to start treatment or interventions if or when they become available, as well as to be part of research studies investigating new treatments.
Most conditions affect multiple systems. The categories below provide guidance on the primary impact of the genetic condition. Click on a category below to see all conditions related to that affected system.
- ACBD5-related retinal dystrophy and leukodystrophy spectrum disorder (ACBD5)
- ACOX1-related progressive myeloneuropathy with sensorineural hearing loss (AD) (ACOX1)
- ACOX1-related peroxisomal acyl-CoA oxidase deficiency (ACOX1)
- ACTB-related disorder (ACTB)
- Baraitser-Winter syndrome (ACTB)
- ACTL6B-related developmental and epileptic encephalopathy (ACTL6B)
- ACTL6B-related neurodevelopmental disorder (ACTL6B)
- Aicardi-Goutieres syndrome 6 (ADAR)
- Hypermethioninemia due to adenosine kinase deficiency (ADK)
- ADNP-related neurodevelopmental disorder with multiple anomalies (ADNP)
- Adenylosuccinate lyase deficiency and epileptic encephalopathy (ADSL)
- Aspartylglucosaminuria (AGA)
- AHDC1-related neurodevelopmental disorder (AHDC1)
- succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
- glycine encephalopathy (AMT)
- KBG syndrome (ANKRD11)
- Coffin-Siris syndrome (ARID1B)
- ASH1L-related neurodevelopmental disorder with multiple anomalies (ASH1L)
- ASXL3-related neurodevelopmental disorder with multiple anomalies (ASXL3)
- Alpha-thalassemia/mental retardation syndrome (ATRX)
- AUTS2-related neurodevelopmental disorder (AUTS2)
- Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK)
- BCL11A-related neurodevelopmental disorder with persistence of fetal hemoglobin (BCL11A)
- Cardiofaciocutaneous syndrome (BRAF)
- CASK-related neurodevelopmental disorder with multiple anomalies (CASK)
- CDKL5-related developmental and epileptic encephalopathy (CDKL5)
- CHAMP1-related neurodevelopmental disorder (CHAMP1)
- CHD2-related developmental and epileptic encephalopathy (CHD2)
- CHD3-related neurodevelopmental disorder (CHD3)
- CHARGE syndrome (CHD7)
- CHD8-related neurodevelopmental disorder (CHD8)
- caseinolytic peptidase B deficiency (CLPB)
- CNOT3-related neurodevelopmental disorder (CNOT3)
- Rubinstein-Taybi syndrome (CREBBP)
- CREBBP-related neurodevelopmental disorder with multiple anomalies (CREBBP)
- Crisponi syndrome (CRLF1)
- CSDE1-related neurodevelopmental disorder with ocular anomalies (CSDE1)
- CSNK2A1-related neurodevelopmental disorder (CSNK2A1)
- CTBP1-related neurodevelopmental disorder (CTBP1)
- CTCF-related neurodevelopmental disorder with multiple anomalies (CTCF)
- CTNNB1 syndrome (CTNNB1)
- DDX3X-related neurodevelopmental disorder (DDX3X)
- DEAF1-related neurodevelopmental disorder (DEAF1)
- DEAF1-related neurodevelopmental and movement disorder (DEAF1)
- Smith-Lemli-Opitz syndrome (DHCR7)
- DHPS-related neurodevelopmental disorder (DHPS)
- dihydrolipoamide dehydrogenase deficiency (DLD)
- 3-methylglutaconic aciduria, type V (DNAJC19)
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
- DYRK1A-related neurodevelopmental disorder (DYRK1A)
- EBF3-related neurodevelopmental disorder with multiple anomalies (EBF3)
- Kleefstra syndrome (EHMT1)
- Ethylmalonic encephalopathy (ETHE1)
- FOXG1-related Rett spectrum disorder (FOXG1)
- FOXP1-related neurodevelopmental disorder (FOXP1)
- FOXP3-related immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (FOXP3)
- Glycine encephalopathy (GLDC)
- GRIN2B-related developmental and epileptic disorder (GRIN2B)
- GRIN2B-related neurodevelopmental disorder (GRIN2B)
- HECW2-related neurodevelopmental disorder (HECW2)
- Septooptic dysplasia (HESX1)
- HIVEP2-related neurodevelopmental disorder (HIVEP2)
- HNRNPH2-related neurodevelopmental disorder with multiple anomalies (HNRNPH2)
- HNRNPU-related neurodevelopmental disorder (HNRNPU)
- Costello syndrome (HRAS)
- 17-beta-hydroxysteroid dehydrogenase deficiency (HSD17B10)
- KAT6A-related neurodevelopmental disorder with multiple anomalies (KAT6A)
- Kabuki syndrome 2 (KDM6A)
- KIF1A-related neurodegenerative spectrum disorder (KIF1A)
- Wiedemann-Steiner syndrome (KMT2A)
- Kabuki syndrome 1 (KMT2D)
- KMT5B-related neurodevelopmental disorder (KMT5B)
- Noonan syndrome (KRAS)
- Cardiofaciocutaneous syndrome (MAP2K1)
- Cardiofaciocutaneous syndrome (MAP2K2)
- MBD5-related neurodevelopmental disorder (MBD5)
- Rett spectrum disorder (MECP2)
- MED13-related neurodevelopmental disorder with multiple anomalies (MED13)
- MED13L-related neurodevelopmental disorder with multiple anomalies (MED13L)
- Mucopolysaccharidosis type IIIB (Sanfilippo B) (NAGLU)
- Nijmegen breakage syndrome (NBN)
- NFU1-related multiple mitochondrial dysfunctions syndrome (NFU1)
- Cornelia de Lange syndrome (NIPBL)
- Sotos syndrome (NSD1)
- PACS1-related neurodevelopmental disorder with multiple anomalies (PACS1)
- Zellweger spectrum disorder (PEX1)
- Zellweger spectrum disorder (PEX2)
- Zellweger spectrum disorder (PEX3)
- Zellweger spectrum disorder (PEX5)
- Zellweger spectrum disorder (PEX6)
- Zellweger spectrum disorder (PEX10)
- Zellweger spectrum disorder (PEX12)
- Zellweger spectrum disorder (PEX13)
- Zellweger spectrum disorder (PEX14)
- Zellweger spectrum disorder (PEX16)
- Zellweger spectrum disorder (PEX19)
- Zellweger spectrum disorder (PEX26)
- Congenital disorder of glycosylation, type IT (PGM1)
- PHIP-related neurodevelopmental disorder with multiple anomalies (PHIP)
- Epilepsy, early-onset, vitamin B6-dependent (PLPBP)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) (POMGNT1)
- PPP2R5D-related neurodevelopmental disorder with multiple anomalies (PPP2R5D)
- Hyperprolinemia, type I (PRODH)
- Griscelli syndrome, type 2 (RAB27A)
- Smith-Magenis syndrome (RAI1)
- Anauxetic dysplasia 1; Cartilage-hair hypoplasia (RMRP)
- Metaphyseal dysplasia without hypotrichosis (RMRP)
- Aicardi-Goutieres syndrome 4 (RNASEH2A)
- Aicardi-Goutieres syndrome 2 (RNASEH2B)
- Aicardi-Goutieres syndrome 3 (RNASEH2C)
- RIDDLE syndrome (RNF168)
- SCN1A-related epilepsy (SCN1A)
- SCN1A-related familial hemiplegic migraine (SCN1A)
- SCN2A-related epilepsy (SCN2A)
- SCN2A-related developmental and epileptic encephalopathy (SCN2A)
- SCN8A-related epilepsy (SCN8A)
- SCN8A-related neurodevelopmental and movement disorder (SCN8A)
- 3-methylglutaconic aciduria (SERAC1)
- SETBP1-related neurodevelopmental disorder (SETBP1)
- Schinzel-Giedion syndrome (SETBP1)
- Mucopolysaccharidisis type IIIA (Sanfilippo A) (SGSH)
- SLC6A1-related neurodevelopmental disorder (SLC6A1)
- Glycine encephalopathy with normal serum glycine (SLC6A9)
- SLC9A6-related Christianson spectrum disorder (SLC9A6)
- Parkinsonism-dystonia (SLC18A2)
- Congenital disorder of glycosylation, type IIn (SLC39A8)
- Netherton syndrome (SPINK5)
- STXBP1-related neurodevelopmental disorder (STXBP1)
- SUCLG2-related mitochondrial DNA depletion syndrome (SUCLA2)
- SUCLG1-related mitochondrial DNA depletion syndrome (SUCLG1)
- SYNGAP1-related neurodevelopmental disorder (SYNGAP1)
- Barth syndrome (TAZ)
- Pitt Hopkins (TCF4)
- Tyrosine hydroxylase deficiency (TH)
- TRIO-related neurodevelopmental disorder (TRIO)
- Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (TRNT1)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
- Angelman syndrome (UBE3A)
- USP9X-related neurodevelopmental disorder with multiple anomalies (USP9X)
- Cohen syndrome (VPS13B)
- WOREE/SCAR12 (WWOX)






