X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Findings
No curated finding names X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
Definition from the Mondo Disease Ontology (MONDO:0018569), read 2026-09-29. CC BY 4.0.
Features
25 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 facial shapeHPOHP:0001999
- Obligate (100% of cases)
- CryptorchidismHPOHP:0000028
- Obligate (100% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Obligate (100% of cases)
- HypotoniaHPOHP:0001252
- Obligate (100% of cases)
- Mandibular prognathiaHPOHP:0000303
- Obligate (100% of cases)
- MicrocephalyHPOHP:0000252
- Obligate (100% of cases)
- Recurrent infectionsHPOHP:0002719
Show the remaining 13
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Knee flexion contractureHPOHP:0006380
- Frequent (30% to 79% of cases)
- LaryngomalaciaHPOHP:0001601
- Frequent (30% to 79% of cases)
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RPL10HGNC:10298
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of