ORPHA:488642
TELO2-related intellectual disability-neurodevelopmental disorder
Synonyms: You-Hoover-Fong syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TELO2-related intellectual disability-neurodevelopmental disorder | You-Hoover-Fong syndrome |
| fr | Trouble neurologique du développement-déficience intellectuelle associée à TELO2 | Syndrome de You-Hoover-Fong |
| de | TELO2-assoziierte Intelligenzminderung mit neurologischer Entwicklungsstörung | You-Hoover-Fong-Syndrom |
| es | Trastorno de discapacidad intelectual-neurodesarrollo asociado a TELO2 | Síndrome de You-Hoover-Fong |
| it | Disabilità intellettiva e alterato neurosviluppo correlati a TELO2 | |
| nl | TELO2-gerelateerde intellectuele achterstand - neurologische ontwikkelingsstoornis | Syndroom van You-Hoover-Fong |
| pt | Perturbação do desenvolvimento intelectual-perturbação do neurodesenvolvimento TELO2-relacionada | |
| pl | Zaburzenie neurorozwojowe z niepełnosprawnością intelektualną związane z TELO2 | Zespół You'a i Hoover-Fong |
| cs | TELO2-vázaná mentální retardace s neurovývojovou poruchou | Youové - Hoover-Fongové syndrom · You - Hoover-Fongové syndrom |
| uk | Повязана з TELO2 інтелектуальна недостатність-порушення нейророзвитку | Синдром Ю-Гувера-Фонга |
| zh | TELO2相关智力障碍-精神发育迟缓 | You-Hoover-Fong综合征 |
| tr | TELO2 -ilişkili zihinsel yetersizlik-nörogelişimsel bozukluk | You-Hoover-Fong sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616954 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014848 | E | validated | |
| UMLS | C4310778 | E | validated |
E 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 (4):
- 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 - ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
rare genetic diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TELO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29099 | ENSG00000100726 | 611140 | 16p13.3 | telomere maintenance 2 | 27132593[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 27132593[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27132593[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.
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HPO phenotypes
52 annotations · validated 2020-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002141 | Gait imbalance | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011451 | Primary microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0004692 | 4-5 toe syndactyly | |
| HP:0030962 | Abnormal morphology of the great vessels | |
| HP:0100022 | Abnormality of movement | |
| HP:0001344 | Absent speech | |
| HP:0001156 | Brachydactyly | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0030084 | Clinodactyly | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0000365 | Hearing impairment | |
| HP:0002540 | Inability to walk | |
| HP:0002465 | Poor speech | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0010296 | Ankyloglossia | |
| HP:0001734 | Annular pancreas | |
| HP:0001251 | Ataxia | |
| HP:0008513 | Bilateral conductive hearing impairment | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000592 | Blue sclerae | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0000519 | Developmental cataract | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000081 | Duplicated collecting system | |
| HP:0020045 | Esodeviation | |
| HP:0003273 | Hip contracture | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0006380 | Knee flexion contracture | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000308 | Microretrognathia | |
| HP:0001845 | Overlapping toe | |
| HP:0000768 | Pectus carinatum | |
| HP:0001838 | Rocker bottom foot | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001583 | Rotary nystagmus | |
| HP:0001773 | Short foot | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0200055 | Small hand | |
| HP:0001182 | Tapered finger | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28944240[PMID]_27132593[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488642
- This record as JSON: /data/d/488642.json