ORPHA:163937
X-linked intellectual disability, Najm type
Synonyms: MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Najm type | MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome |
| fr | Déficience intellectuelle liée à l'X type Najm | MICPCH · Syndrome de déficience intellectuelle liée à l'X-microcéphalie-hypoplasie pontocérébelleuse |
| de | Intelligenzminderung, X-chromosomale, Typ Najm | MICPCH-Syndrom · Syndrom der X-chromosomalen Intelligenzminderung mit Mikrozephalie und pontozerebellärer Hypoplasie |
| es | Discapacidad intelectual ligada al cromosoma X tipo Najm | Síndrome de discapacidad intelectual-microcefalia-hipoplasia pontocerebelosa ligado al cromosoma X |
| it | Deficit cognitivo legato all'X, tipo Najm | Deficit cognitivo legato all'X - microcefalia - ipoplasia pontocerebellare · MICPCH · Deficit cognitivo legato all'X-microcefalia-ipoplasia pontocerebellare |
| nl | X-gebonden intellectuele achterstand, Najm-type | MICPCH · X-gebonden intellectuele achterstand - microcefalie - pontocerebellaire hypoplasie-syndroom |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Najm | MICPCH · Perturbação do desenvolvimento intelectual ligada ao X-microcefalia-hipoplasia pontocerebelosa |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Najma | MICPCH · Niepełnosprawność intelektualna sprzężona z chromosomem X - małogłowie - hipoplazja mostu i móżdżku |
| cs | X-vázaná mentální retardace, Najmové typ | MICPCH · Syndrom zahrnující X-vázanou mentální retardaci, mikrocefalii a pontocerebelární hypoplázii |
| uk | Х-зчеплена розумова відсталість, тип Наджма | MICPCH · Х-зчеплений синдром розумової відсталості - мікроцефалії - гіпоплазії мозочка |
| zh | 脑桥和小脑发育不全的智力发育迟缓和小头畸形 | X连锁智力障碍-小头畸形-桥小脑发育不全综合征 |
| tr | X'e bağlı zihinsel yetersizlik, Necm tipi | MICPCH · X'e bağlı zihinsel yetersizlik-mikrosefali-pontocerebellar hipoplazi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300749 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0010417 | E | validated | |
| UMLS | C2677903 | E | validated | |
| GARD | 12669 | 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 (5):
- 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:728528Pontocerebellar hypoplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASK | Disease-causing germline mutation(s) in | Assessed | HGNC:1497 | ENSG00000147044 | 300172 | Xp11.4 | calcium/calmodulin dependent serine protein kinase | 19165920[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
46 annotations · validated 2024-05-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000253 | Progressive microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0034353 | Appendicular spasticity | |
| HP:0008936 | Axial hypotonia | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001332 | Dystonia | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0011097 | Epileptic spasm | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001288 | Gait disturbance | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0032794 | Myoclonic seizure | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003196 | Short nose | |
| HP:0002360 | Sleep abnormality | |
| HP:0012171 | Stereotypical hand wringing | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0100660 | Dyskinesia | |
| HP:0001508 | Failure to thrive | |
| HP:0000648 | Optic atrophy | |
| HP:0000543 | Optic disc pallor | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0003508 | Proportionate short stature | |
| HP:0002063 | Rigidity | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
| HP:0002317 | Unsteady gait | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24278995[PMID]_37628707[PMID]_35670295[PMID]_28783747[PMID]_25886057[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163937
- This record as JSON: /data/d/163937.json