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2p21 microdeletion syndrome without cystinuria

2 associated genes
No signs/symptoms info

COMMON GENES: 1

Hypotonia - cystinuria syndrome

1 OMIM reference -
2 associated genes
14 signs/symptoms

2p21 microdeletion syndrome without cystinuria

Hypotonia - cystinuria syndrome

CAMKMT	(UniProt - OMIM)		PREPL	(UniProt - OMIM)
PREPL	(UniProt - OMIM)		SLC3A1	(UniProt - OMIM)


COMMON GENES	PREPL

Citations in the biomedical literature:

2p21 microdeletion syndrome without cystinuria		Hypotonia - cystinuria syndrome
	Synonym(s): - Del(2)(p21) without cystinuria		Synonym(s): - HCS

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		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: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Hypotonia - cystinuria syndrome
	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
2p21 microdeletion syndrome without cystinuria
(no data available)