Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test45 genes linked to Growth abnormality
Changes in these genes cause rare conditions in which Growth abnormality is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Very often (80–99%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Often (30–79%) | In 1 condition |
| GNASGNAS complex locus | Often (30–79%) | In 1 condition |
| PDE11Aphosphodiesterase 11A | Sometimes (5–29%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sometimes (5–29%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Not recorded | In 1 condition |
| ARandrogen receptor | Not recorded | In 1 condition |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Not recorded | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Not recorded | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Not recorded | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Not recorded | In 1 condition |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Not recorded | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Not recorded | In 1 condition |
| ELANEelastase, neutrophil expressed | Not recorded | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Not recorded | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| GNSglucosamine (N-acetyl)-6-sulfatase | Not recorded | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Not recorded | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Not recorded | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Not recorded | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Not recorded | In 1 condition |
| LRP5LDL receptor related protein 5 | Not recorded | In 1 condition |
| MGPmatrix Gla protein | Not recorded | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Not recorded | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Not recorded | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Not recorded | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Not recorded | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Not recorded | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Not recorded | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Not recorded | In 1 condition |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Not recorded | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Not recorded | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Not recorded | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Not recorded | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Not recorded | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Not recorded | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Not recorded | In 1 condition |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Not recorded | In 1 condition |
Show 5 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Not recorded | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Not recorded | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Not recorded | In 1 condition |
| SGSHN-sulfoglucosamine sulfohydrolase | Not recorded | In 1 condition |
| SLC26A3solute carrier family 26 member 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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