Synonym(s): (no synonyms)
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C535880
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
UBR1	Q8IWV7	605981

- Abnormal implantation of hair
- Alopecia
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intrauterine growth retardation
- Malabsorption / chronic diarrhea / steatorrhea
- Pancreatic failure / exocrine pancreas disease
- Short stature / dwarfism / nanism
- Short / small nose
- Structural anomalies of the pancreas
- Thin / hypoplastic ala nasi

- Anaemia
- Anodontia / oligodontia / hypodontia
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hypoproteinemia
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Sensorineural deafness / hearing loss
- Uterine / uterus / Fallopian tubes anomalies

- Cardiac septal defect
- Congenital cardiac anomaly / malformation / cardiopathy
- Cutaneous edema
- Death in infancy
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Diabetes mellitus
- Hypospadias / epispadias / bent penis
- Hypotonia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micropenis / small penis / agenesis
- Small / triangular nares / nostrils