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Hypotonia - cystinuria syndrome
1 OMIM reference -
2 associated genes
5 connected diseases
14 signs/symptoms
Disease Type of connection
2p21 microdeletion syndrome
Atypical hypotonia - cystinuria syndrome
2p21 microdeletion syndrome without cystinuria
Cystinuria type A
Autosomal recessive limb girdle muscular dystrophy type 2A
Synonym(s):
- HCS
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PREPL Q4J6C6609557
SLC3A1 Q07837104614
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Bulimia / hyperphagia
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Hypotonia
- Ptosis
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Asthenia / fatigue / weakness
- Epicanthic folds
- Frontal bossing / prominent forehead
- Micrognathia / retrognathia / micrognathism / retrognathism