ORPHA:647799
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Synonyms: MYT1L-associated neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions), non-specific magnetic resonance imaging (brain MRI) abnormalities, ophthalmologic abnormalities, epilepsy, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MYT1L-related developmental delay-intellectual disability-obesity syndrome | MYT1L-associated neurodevelopmental disorder |
| fr | Syndrome de retard développemental-déficience intellectuelle-obésité associé à MYT1L | Trouble neurodéveloppemental associé à MYT1L |
| de | MYT1L-assoziierte neurologische Entwicklungsstörung-Intelligenzminderung-Adipositas-Syndrom | MYT1L-assoziiertes Prader-Willi-ähnliches Syndrom · Neurologische Entwicklungsstörung, MYT1L-assoziierte |
| es | Síndrome de retraso del desarrollo-discapacidad intelectual-obesidad asociado a MYT1L | Trastorno del neurodesarrollo asociado a MYT1L |
| it | Sindrome ritardo dello sviluppo-disabilità intellettiva-obesità correlata a MYT1L | Disturbo dello sviluppo neurologico associato al gene MYT1L |
| nl | MYT1L-gerelateerd ontwikkelingsachterstand - intellectuele achterstand - obesitas-syndroom | MYT1L-geassocieerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de perturbação do desenvolvimento intelectual-obesidade MYT1L-relacionada | Doença do neurodesenvolvimento MYT1L-relacionada |
| pl | Związany z MYT1L zespół opóźnienia rozwoju-niepełnosprawności intelektualnej-otyłości | = en |
| cs | Syndrom zahrnující vývojové opoždění, mentální retardaci a obezitu asociovaný s MYT1L | = en |
| uk | MYT1L-повязаний синдром затримки розвитку-інтелектуальної недостатності-ожиріння | Синдром Прадера-Віллі, повязаний з MYT1L |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616521 | NTBT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0957477 | E | validated | |
| UMLS | C5816753 | 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 (3):
- ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYT1L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7623 | ENSG00000186487 | 613084 | 2p25.3 | myelin transcription factor 1 like | 34748075[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
66 annotations · validated 2024-02-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0010862 | Delayed fine motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0011443 | Abnormality of coordination | |
| HP:0000718 | Aggressive behavior | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0012378 | Fatigue | |
| HP:0008947 | Floppy infant | |
| HP:0000293 | Full cheeks | |
| HP:0100710 | Impulsivity | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001270 | Motor delay | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0002360 | Sleep abnormality | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000739 | Anxiety | |
| HP:0000483 | Astigmatism | |
| HP:0003763 | Bruxism | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0000028 | Cryptorchidism | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000540 | Hypermetropia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009800 | Maternal diabetes | |
| HP:0008071 | Maternal hypertension | |
| HP:0000252 | Microcephaly | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0025502 | Overweight | |
| HP:0032508 | Polyembolokoilamania | |
| HP:0001622 | Premature birth | |
| HP:0000817 | Reduced eye contact | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:6000352 | Tachyphagia | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0034977 | Abnormal pituitary stalk morphology | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000135 | Hypogonadism | |
| HP:0000256 | Macrocephaly | |
| HP:0000054 | Micropenis | |
| HP:0010952 | Mild fetal ventriculomegaly | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000107 | Renal cyst | |
| HP:0010535 | Sleep apnea | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 34748075[PMID]_33622623[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647799
- This record as JSON: /data/d/647799.json