central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Findings
No curated finding names central nervous system calcification-deafness-tubular acidosis-anemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
Definition from the Mondo Disease Ontology (MONDO:0017924), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent brainstem auditory responsesHPOHP:0004463
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- Atopic dermatitisHPOHP:0001047
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Diffuse cerebral atrophy
Show the remaining 9
- Increased circulating ferritin concentrationHPOHP:0003281
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Spastic tetraplegiaHPOHP:0002510
- Frequent (30% to 79% of cases)
- Subcortical white matter calcificationsHPOHP:0007346
- Frequent (30% to 79% of cases)
- Vestibular areflexiaHPOHP:0008568
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- Also called
- Yoshimura-Takeshita syndrome