hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
MONDO:0017406Mondo
Findings
No curated finding names hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
47 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.
- Abnormal optic disc morphologyHPOHP:0012795
- Very frequent (80% to 99% of cases)
- Broad halluxHPOHP:0010055
- Very frequent (80% to 99% of cases)
- Congenital sensorineural hearing impairmentHPOHP:0008527
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Decreased corneal thicknessHPOHP:0100689
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Early-onset non-progressive night blindnessHPOHP:0007642
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 35
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Marked delay in bone ageHPOHP:0003799
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Also called
- hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome