ORPHA:708178
Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome
Synonyms: ZNF148-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome | ZNF148-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-apraxie de la parole-dysmorphie faciale-anomalies des membres et des paupières | Trouble du neurodéveloppement associé à ZNF148 |
| de | Globale Entwicklungsverzögerung-Sprachapraxie-Gesichtsdysmorphie-Gliedmaßen- und Gaumenanomalien-Syndrom | Neurologische Entwicklungsstörung, ZNF148-assoziierte |
| es | Síndrome de retraso global del desarrollo-apraxia del habla-dismorfia facial-anomalías palpebrales y de las extremidades | Trastorno del neurodesarrollo asociado a ZNF148 |
| it | Sindrome ritardo globale dello sviluppo-aprassia del linguaggio-dismorfismi facciale-anomalie degli arti e delle palpebre | Malattia del neurosviluppo correlata a ZNF148 |
| nl | Algehele ontwikkelingsachterstand - spraakapraxie - faciale dysmorfie - anomalieën van ledematen en oogleden-syndroom | ZNF148-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome | |
| pl | Zespół globalnego opóźnienia rozwoju, apraksji mowy, dysmorfii twarzy oraz wad kończyn i powiek | = en |
| cs | Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZNF148 | Disease-causing germline mutation(s) in | Assessed | HGNC:12933 | ENSG00000163848 | 601897 | 3q21.2 | zinc finger protein 148 | 27964749[PMID]_36444493[PMID]_37580113[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 37580113[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 37580113[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/708178
- This record as JSON: /data/d/708178.json