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2p21 microdeletion syndrome
1 OMIM reference -
4 associated genes
28 connected diseases
18 signs/symptoms
Disease Type of connection
Atypical hypotonia - cystinuria syndrome
2p21 microdeletion syndrome without cystinuria
Hypotonia - cystinuria syndrome
Cystinuria type A
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal recessive primary microcephaly
Familial amyloidosis, Finnish type
17p13.3 microduplication syndrome
Autosomal dominant dopa-responsive dystonia
Autosomal recessive limb girdle muscular dystrophy type 2A
Chuvash erythrocytosis
Distal 17p13.3 microdeletion syndrome
GTP cyclohydrolase I deficiency
Miller-Dieker syndrome
Richieri Costa-Pereira syndrome
Von Hippel-Lindau disease
Berardinelli-Seip congenital lipodystrophy
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 (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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CAMKMT Q7Z624609559
PPM1B O75688603770
PREPL Q4J6C6609557
SLC3A1 Q07837104614
Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Depressed nasal bridge
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hypotonia
- 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
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Hypocalcemia
- Organic acid metabolism anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Fetal immobility / abnormal fetal movements
- Hypoglycemia