ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 7

1 OMIM reference -
4 associated genes
18 signs/symptoms

Hypotonia - cystinuria syndrome

2p21 microdeletion syndrome

Citations in the biomedical literature:

Hypotonia - cystinuria syndrome		2p21 microdeletion syndrome
	Synonym(s): - HCS		Synonym(s): - 2p21 deletion - Del(2)(p21) - Monosomy 2p21

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Fetal immobility / abnormal fetal movements - Frontal bossing / prominent forehead - Hypotonia - Urinary / renal lithiasis / kidney stones / nephritic colic

Hypotonia - cystinuria syndrome		2p21 microdeletion syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Bulimia / hyperphagia - Dolichocephaly / scaphocephaly - Ptosis Frequent - Asthenia / fatigue / weakness - Epicanthic folds - Micrognathia / retrognathia / micrognathism / retrognathism		Very frequent - Depressed nasal bridge - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Respiratory chain / mitochondrial anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Hypocalcemia - Organic acid metabolism anomalies - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Hypoglycemia