Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
Synonyms: DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterized by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioral abnormalities (including autistic features, aggressive behavior, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome | DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder |
| fr | Syndrome de retard neurodéveloppemental-déficience intellectuelle-ataxie-troubles de l'alimentation | Syndrome de retard neurodéveloppemental-déficience intellectuelle-ataxie-trouble de l'alimentation lié à DHX30 · Trouble neurodéveloppemental associé à DHX30 |
| de | Neurologische Entwicklungsverzögerung-Intelligenzminderung-Ataxie-Fütterungsschwierigkeiten-Syndrom | DHX30-assoziierte neurologische Entwicklungsstörung mit Intelligenzminderung, Ataxie und Fütterungsschwierigkeiten · Neurologische Entwicklungsstörung, DHX30-assoziierte |
| es | Síndrome de retraso del neurodesarrollo-discapacidad intelectual-ataxia-dificultades para alimentarse | Síndrome de retraso del neurodesarrollo-discapacidad intelectual-ataxia-dificultades para alimentarse asociado a DHX30 · Trastorno del neurodearrollo asociado a DHX30 |
| it | Sindrome ritardo dello sviluppo neurologico-disabilità intellettiva-atassia-difficoltà di alimentazione | Malattia dello sviluppo neurologico correlata a DHX30 · Sindrome ritardo dello sviluppo neurologico-disabilità intellettiva-atassia-difficoltà di alimentazione correlata a DHX30 |
| nl | Neurologische ontwikkelingsachterstand - intellectuele achterstand - ataxie - voedingsprobleem-syndroom | DHX30-gerelateerd neurologische ontwikkelingsachterstand - intellectuele achterstand - ataxie - voedingsprobleem-syndroom · DHX30-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de perturbação do desenvolvimento intelectual-ataxia-dificuldades alimentares | Doença do neurodesenvolvimento DHX30-relacionada · Síndrome de perturbação do desenvolvimento intelectual-ataxia-dificuldades alimentares DHX30-relacionada |
| pl | Zespół opóźnienia neurorozwojowego-niepełnosprawności intelektualnej-ataksji-problemów z karmieniem | = en |
| cs | Syndrom zahrnující neurovývojové opoždění, mentální retardaci, ataxii a obtíže s krmením | = en |
| uk | Синдром затримки нейророзвитку-інтелектуальної недостатності-атаксії-труднощів з годуванням | DHX30-повязаний синдром затримки нейророзвитку-інтелектуальної недостатності-атаксії-проблем з годуванням · Повязане з DHX30 порушення нейророзвитку |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617804 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0060622 | E | validated | |
| UMLS | C5816755 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHX30 | Disease-causing germline mutation(s) in | Assessed | HGNC:16716 | ENSG00000132153 | 616423 | 3p21.31 | DExH-box helicase 30 | 34020708[PMID]_29100085[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647788
- This record as JSON: /data/d/647788.json