prominent glabella-microcephaly-hypogenitalism syndrome
MONDO:0009543Mondo
Findings
No curated finding names prominent glabella-microcephaly-hypogenitalism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
Definition from the Mondo Disease Ontology (MONDO:0009543), read 2026-09-29. CC BY 4.0.
Features
31 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 hair patternHPOHP:0010720
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Show the remaining 19
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Overfolded helixHPOHP:0000396
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Prominent glabellaHPOHP:0002057
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: prominent glabella-microcephaly-hypogenitalism syndrome
- Also called
- MacDermot-Winter syndrome