IEMbase 0515: NSDHL-related CK syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 515 |
| Nosology | 14.7.08.02 |
| Gene | NSDHL |
| External IDs | OMIM:300831; ORPHA:251383 |
| Generated mapping | UNMAPPED; best candidate Wieacker_Wolff_Syndrome.yaml |
| Candidate DisMech targets | No exact local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as recessive NSDHL-related CK syndrome, with alternate labels NSDHL deficiency and CKS. No treatments are listed.
The biochemical rows include increased 4,4-dimethyl sterols and 4-methyl sterols in lymphoblasts. Clinical rows include almond-shaped eyes, epicanthal folds, high nasal bridge, high-arched palate, long narrow face, micrognathia, posteriorly rotated ears, retrognathia, seizures, thin body habitus, upslanting palpebral fissures, and dysmorphic features. Clinical-characteristic rows add behavioral disorder, cerebral cortical malformations, cognitive dysfunction, and microcephaly.
DisMech phenotype coverage
No exact local NSDHL/CK syndrome target was found. The generated candidate
Wieacker_Wolff_Syndrome.yaml is not valid: it models ZC4H2-associated
X-linked neurodevelopmental and neuromuscular disease with congenital
contractures/arthrogryposis, distal weakness or atrophy, oculomotor apraxia, and
developmental delay. It does not model NSDHL sterol-biosynthesis dysfunction,
methyl/dimethyl sterol accumulation, or CK syndrome as an NSDHL phenotype.
The earlier NSDHL/CHILD syndrome IEMbase note also resolved as a true local gap. CK syndrome appears to be a distinct NSDHL-linked neurodevelopmental phenotype rather than the lateralized skin-limb CHILD phenotype.
Concordance and completeness
Judgement: true local disease gap.
IEMbase anchors this record in NSDHL and abnormal sterol intermediates, with a neurodevelopmental/dysmorphic phenotype including microcephaly, cerebral cortical malformations, seizures, behavioral disorder, and cognitive dysfunction. No local entry captures that gene-specific sterol disorder.
Curation actions
- Do not map this record to
Wieacker_Wolff_Syndrome.yaml. - Track NSDHL-related CK syndrome as a local gap separate from, or subtype-linked to, any future NSDHL/CHILD syndrome entry.
- Preserve lymphoblast 4-methyl and 4,4-dimethyl sterol prompts plus the neurodevelopmental, seizure, microcephaly, cortical-malformation, and dysmorphic-feature rows.