ORPHA:2162
Holoprosencephaly
Synonyms: HPE
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holoprosencephaly | HPE |
| fr | Holoprosencéphalie | = en |
| de | Holoprosenzephalie | = en |
| es | Holoprosencefalia | = en |
| it | Oloprosencefalia | = en |
| nl | Holoprosencefalie | = en |
| pt | Holoprosencefalia | |
| pl | Holoprosencefalia | = en |
| cs | Holoprosencefalie | = en |
| uk | Голопрозенцефалія | = en |
| zh | 前脑无裂畸形 | = en |
| tr | Holoprozensefali | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142945 | BTNT | validated | |
| OMIM | 142946 | BTNT | validated | |
| OMIM | 147250 | BTNT | validated | |
| OMIM | 157170 | BTNT | validated | |
| OMIM | 236100 | E | validated | |
| OMIM | 605934 | BTNT | validated | |
| OMIM | 609408 | BTNT | validated | |
| OMIM | 609637 | BTNT | validated | |
| OMIM | 610828 | BTNT | validated | |
| OMIM | 610829 | BTNT | validated | |
| OMIM | 612530 | NTBT | validated | |
| OMIM | 614226 | BTNT | validated | |
| OMIM | 619895 | BTNT | validated | |
| ICD-10 | Q04.2 | E | specific | validated |
| ICD-11 | LA05.2 | E | specific | validated |
| MONDO | 0016296 | E | validated | |
| MeSH | D016142 | E | validated | |
| UMLS | C0079541 | E | validated | |
| GARD | 6665 | E | validated | |
| MedDRA | 10056304 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:268926Midline cerebral malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
4
Genes
0 direct · 81 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FGFR1 | ORPHA:93924Lobar holoprosencephaly | Candidate gene tested in | Not yet assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 27363716[PMID] |
| SMC1A | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11111 | ENSG00000072501 | 300040 | Xp11.22 | structural maintenance of chromosomes 1A | 31334757[PMID] |
| STAG2 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11355 | ENSG00000101972 | 300826 | Xq25 | STAG2 cohesin complex component | 31334757[PMID] |
| STAG2 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11355 | ENSG00000101972 | 300826 | Xq25 | STAG2 cohesin complex component | 31334757[PMID] |
| CDON | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | |
| CDON | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | |
| CDON | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | |
| CDON | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | |
| CDON | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | |
| CRIPTO | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11701 | ENSG00000241186 | 187395 | 3p21.31 | cripto, EGF-CFC family member | |
| CRIPTO | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11701 | ENSG00000241186 | 187395 | 3p21.31 | cripto, EGF-CFC family member | |
| CRIPTO | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11701 | ENSG00000241186 | 187395 | 3p21.31 | cripto, EGF-CFC family member | |
| CRIPTO | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11701 | ENSG00000241186 | 187395 | 3p21.31 | cripto, EGF-CFC family member | |
| CRIPTO | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11701 | ENSG00000241186 | 187395 | 3p21.31 | cripto, EGF-CFC family member | |
| DISP1 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:19711 | ENSG00000154309 | 607502 | 1q41 | dispatched RND transporter family member 1 | |
| DISP1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:19711 | ENSG00000154309 | 607502 | 1q41 | dispatched RND transporter family member 1 | |
| DISP1 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:19711 | ENSG00000154309 | 607502 | 1q41 | dispatched RND transporter family member 1 | |
| DISP1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:19711 | ENSG00000154309 | 607502 | 1q41 | dispatched RND transporter family member 1 | |
| DISP1 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:19711 | ENSG00000154309 | 607502 | 1q41 | dispatched RND transporter family member 1 | |
| DLL1 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2908 | ENSG00000198719 | 606582 | 6q27 | delta like canonical Notch ligand 1 | |
| DLL1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2908 | ENSG00000198719 | 606582 | 6q27 | delta like canonical Notch ligand 1 | |
| DLL1 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2908 | ENSG00000198719 | 606582 | 6q27 | delta like canonical Notch ligand 1 | |
| DLL1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2908 | ENSG00000198719 | 606582 | 6q27 | delta like canonical Notch ligand 1 | |
| DLL1 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:2908 | ENSG00000198719 | 606582 | 6q27 | delta like canonical Notch ligand 1 | |
| FGF8 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | |
| FGF8 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | |
| FGF8 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | |
| FGF8 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | |
| FGF8 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | |
| FGFR1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 27363716[PMID] |
| FOXH1 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3814 | ENSG00000160973 | 603621 | 8q24.3 | forkhead box H1 | |
| FOXH1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3814 | ENSG00000160973 | 603621 | 8q24.3 | forkhead box H1 | |
| FOXH1 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3814 | ENSG00000160973 | 603621 | 8q24.3 | forkhead box H1 | |
| FOXH1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3814 | ENSG00000160973 | 603621 | 8q24.3 | forkhead box H1 | |
| FOXH1 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:3814 | ENSG00000160973 | 603621 | 8q24.3 | forkhead box H1 | |
| GAS1 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4165 | ENSG00000180447 | 139185 | 9q21.33 | growth arrest specific 1 | |
| GAS1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4165 | ENSG00000180447 | 139185 | 9q21.33 | growth arrest specific 1 | |
| GAS1 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4165 | ENSG00000180447 | 139185 | 9q21.33 | growth arrest specific 1 | |
| GAS1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4165 | ENSG00000180447 | 139185 | 9q21.33 | growth arrest specific 1 | |
| GAS1 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4165 | ENSG00000180447 | 139185 | 9q21.33 | growth arrest specific 1 | |
| GLI2 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | |
| GLI2 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | |
| GLI2 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | |
| GLI2 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | |
| GLI2 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | |
| NODAL | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | |
| NODAL | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | |
| NODAL | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | |
| NODAL | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | |
| NODAL | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | |
| PLCH1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:29185 | ENSG00000114805 | 612835 | 3q25.31 | phospholipase C eta 1 | 33820834[PMID] |
| PTCH1 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | |
| PTCH1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | |
| PTCH1 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | |
| PTCH1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | |
| PTCH1 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | |
| SHH | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | |
| SHH | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | |
| SHH | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | |
| SHH | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | |
| SHH | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | |
| SIX3 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| SIX3 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| SIX3 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| SIX3 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| SIX3 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| STIL | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | 29785796[PMID] |
| STIL | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | 29785796[PMID] |
| STIL | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | 29785796[PMID] |
| STIL | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | 29785796[PMID] |
| STIL | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | 29785796[PMID] |
| TGIF1 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11776 | ENSG00000177426 | 602630 | 18p11.31 | TGFB induced factor homeobox 1 | |
| TGIF1 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11776 | ENSG00000177426 | 602630 | 18p11.31 | TGFB induced factor homeobox 1 | |
| TGIF1 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11776 | ENSG00000177426 | 602630 | 18p11.31 | TGFB induced factor homeobox 1 | |
| TGIF1 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11776 | ENSG00000177426 | 602630 | 18p11.31 | TGFB induced factor homeobox 1 | |
| TGIF1 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:11776 | ENSG00000177426 | 602630 | 18p11.31 | TGFB induced factor homeobox 1 | |
| ZIC2 | ORPHA:93924Lobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:12873 | ENSG00000043355 | 603073 | 13q32.3 | Zic family zinc finger 2 | |
| ZIC2 | ORPHA:93925Alobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:12873 | ENSG00000043355 | 603073 | 13q32.3 | Zic family zinc finger 2 | |
| ZIC2 | ORPHA:93926Midline interhemispheric variant of holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:12873 | ENSG00000043355 | 603073 | 13q32.3 | Zic family zinc finger 2 | |
| ZIC2 | ORPHA:220386Semilobar holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:12873 | ENSG00000043355 | 603073 | 13q32.3 | Zic family zinc finger 2 | |
| ZIC2 | ORPHA:280195Septopreoptic holoprosencephaly | Disease-causing germline mutation(s) in | Assessed | HGNC:12873 | ENSG00000043355 | 603073 | 13q32.3 | Zic family zinc finger 2 |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 13.4 / 100 000 | Europe | Value and class | Validated | 20104599[PMID]_[EXPERT]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.5 / 100 000 | United States | Value and class | Not yet validated | 9409876[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 21.6 / 100 000 | Latin America | Value and class | Validated | 17987642[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 15 / 100 000 | United Kingdom | Value and class | Not yet validated | 11349198[PMID]_17286306[PMID]_8818944[PMID]_ORPHANET |
| Prevalence at birth | 6-9 / 10 000 | 60.6 / 100 000 | Taiwan, Province of China | Value and class | Validated | 15844779[PMID] |
| Prevalence at birth | >1 / 1000 | 502 / 100 000 | Japan | Value and class | Validated | 15329827[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 10.9 / 100 000 | Specific population | Value and class | Validated | 10703035[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
93 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0100336 | Bilateral cleft lip | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000161 | Median cleft lip | |
| HP:0009099 | Median cleft palate | |
| HP:0006315 | Single median maxillary incisor | |
| Frequent (79-30%) | ||
| HP:0000528 | Anophthalmia | |
| HP:0000458 | Anosmia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000453 | Choanal atresia | |
| HP:0100543 | Cognitive impairment | |
| HP:0009914 | Cyclopia | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001332 | Dystonia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0004409 | Hyposmia | |
| HP:0000601 | Hypotelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000612 | Iris coloboma | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0001324 | Muscle weakness | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0009804 | Tooth agenesis | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0100596 | Absent nares | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0000463 | Anteverted nares | |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0011675 | Arrhythmia | |
| HP:0000581 | Blepharophimosis | |
| HP:0001156 | Brachydactyly | |
| HP:0009794 | Branchial anomaly | |
| HP:0000289 | Broad philtrum | |
| HP:0002072 | Chorea | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002002 | Deep philtrum | |
| HP:0000490 | Deeply set eye | |
| HP:0000437 | Depressed nasal tip | |
| HP:0000873 | Diabetes insipidus | |
| HP:0002084 | Encephalocele | |
| HP:0000286 | Epicanthus | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0005469 | Flat occiput | |
| HP:0002007 | Frontal bossing | |
| HP:0001161 | Hand polydactyly | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0002902 | Hyponatremia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0011100 | Intestinal atresia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0001539 | Omphalocele | |
| HP:0000648 | Optic atrophy | |
| HP:0000871 | Panhypopituitarism | |
| HP:0000093 | Proteinuria | |
| HP:0000508 | Ptosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000488 | Retinopathy | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0010302 | Spinal cord tumor | |
| HP:0010301 | Spinal dysraphism | |
| HP:0000664 | Synophrys | |
| HP:0001883 | Talipes | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000574 | Thick eyebrow | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 7 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2162
- This record as JSON: /data/d/2162.json