Fischer-Zirnsak progeroid syndrome
MONDO:0700301Mondo
Findings
No curated finding names Fischer-Zirnsak progeroid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester onset
HPO, annotations 2026-09-02
Features
29 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 speechHPOHP:0001344
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Dermal translucencyHPOHP:0010648
- 1 of 1 reported patient
- Developmental cataractHPOHP:0000519
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Generalized lipodystrophyHPOHP:0009064
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
Show the remaining 17
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Natal toothHPOHP:0000695
- 1 of 1 reported patient
Where it sits
- A kind of