ORPHA:730355
Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome
Synonyms: RYBP-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome | RYBP-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-troubles sévères de l'alimentation-petite taille-anomalies congénitales multiples | Trouble du neurodéveloppement associé à RYBP |
| de | Globale Entwicklungsverzögerung-schwere Fütterstörungen-Kleinwuchs-multiple kongenitale Anomalien-Syndrom | RYBP-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-dificultades graves para la alimentación-talla baja-múltiples anomalías congénitas | Trastorno del neurodesarrollo asociado al gen RYBP |
| it | Sindrome ritardo dello sviluppo globale-gravi difficoltà di alimentazione-bassa statura-anomalie congenite multiple | Malattia del neurosviluppo correlata a RYBP |
| nl | Algehele ontwikkelingsachterstand - ernstige voedingsproblemen - kleine gestalte - multipele congenitale anomalieën-syndroom | RYBP-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome | |
| pl | Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome | = en |
| cs | Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYBP | Disease-causing germline mutation(s) in | Assessed | HGNC:10480 | RING1 and YY1 binding protein | RING1 and YY1 binding protein | 39891528[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730355
- This record as JSON: /data/d/730355.json