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Distal 17p13.3 microdeletion syndrome
1 associated gene
153 connected diseases
No signs/symptoms info
Disease Type of connection
17p13.3 microduplication syndrome
Miller-Dieker syndrome
Familial isolated dilated cardiomyopathy
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Precursor T-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Tuberous sclerosis
Giant cell glioblastoma
Cardiofaciocutaneous syndrome
Chronic myeloid leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
2q37 microdeletion syndrome
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Camurati-Engelmann disease
Cystic fibrosis
Spinocerebellar ataxia type 1
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Autosomal recessive spastic paraplegia type 58
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Peters anomaly
Uveal coloboma - cleft lip and palate - intellectual deficit
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Catecholaminergic polymorphic ventricular tachycardia
Familial short QT syndrome
Romano-Ward syndrome
Growth delay due to insulin-like growth factor I resistance
Isolated focal cortical dysplasia type IIb
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Burkitt lymphoma
Fibronectin glomerulopathy
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Squamous cell carcinoma of head and neck
Familial congenital palsy of trochlear nerve
Inherited congenital spastic tetraplegia
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Intellectual deficit, Birk-Barel type
2p21 microdeletion syndrome
Achondrogenesis type 1A
Acrocallosal syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Angelman syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant spastic paraplegia type 31
Autosomal recessive limb-girdle muscular dystrophy type 2H
Bardet-Biedl syndrome
Behavioral variant of frontotemporal dementia
Bernard-Soulier syndrome
Bullous pemphigoid
Combined immunodeficiency due to STK4 deficiency
Congenital dyserythropoietic anemia type III
Congenital fibrosis of extraocular muscles
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Cowden syndrome
Diffuse cutaneous systemic sclerosis
Distal hereditary motor neuropathy type 5
Estrogen resistance syndrome
FTH1-related iron overload
Fetal and neonatal alloimmune thrombocytopenia
Follicular lymphoma
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Glycogen storage disease due to liver phosphorylase kinase deficiency
Graham Little-Piccardi-Lassueur syndrome
Greig cephalopolysyndactyly syndrome
Hereditary sensory and autonomic neuropathy type 2
Herpetic encephalitis
Hyperinsulinism due to HNF1A deficiency
Isolated ATP synthase deficiency
Isolated cytochrome C oxidase deficiency
Late-onset autosomal recessive medullary cystic kidney disease
Lethal ataxia with deafness and optic atrophy
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Lissencephaly due to TUBA1A mutation
MELAS syndrome
MODY syndrome
Maternally-inherited Leigh syndrome
Mosaic variegated aneuploidy syndrome
Muscular dystrophy, Selcen type
Narcolepsy without cataplexy
Occipital encephalocele
Pallister-Hall syndrome
Partial chromosome Y deletion
Phosphoribosylpyrophosphate synthetase superactivity
Polymicrogyria due to TUBB2B mutation
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Primary hyperoxaluria type 1
Progressive non-fluent aphasia
Proteus syndrome
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Pyridoxine-dependent epilepsy
Pyruvate dehydrogenase E1-beta deficiency
Semantic dementia
Spastic paraplegia - Paget disease of bone
TARP syndrome
Von Willebrand disease, platelet type
X-linked Charcot-Marie-Tooth disease type 5
X-linked Emery-Dreifuss muscular dystrophy
X-linked non progressive cerebellar ataxia
X-linked nonsyndromic sensorineural deafness type DFN
Autosomal dominant nonsyndromic intellectual deficit
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 17
Pulverulent cataract
Spinocerebellar ataxia type 14
Barth syndrome
Cone rod dystrophy
Distal 22q11.2 microdeletion syndrome
Left ventricular noncompaction
Parkinsonian-pyramidal syndrome
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Retinitis pigmentosa
Familial thoracic aortic aneurysm and aortic dissection
Moyamoya disease
Omenn syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
YWHAE P62258605066
No signs/symptoms info available.