Incomplete penetrance

Symptom Information:

Symptom ID: HPO:0003829
Synonyms:
Reduced penetrance [HPO:0003829]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Phenotypic variability
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 85 / 7739
Resource:

All diseases associated with this symptom:

15q13.3 microdeletion syndrome (Orphanet:199318)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (Orphanet:99937)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant epilepsy with auditory features (Orphanet:101046)
Autosomal dominant hypophosphatemic rickets (Orphanet:89937)
Autosomal dominant limb-girdle muscular dystrophy type 1H (Orphanet:238755)
Autosomal dominant nocturnal frontal lobe epilepsy (Orphanet:98784)
Autosomal dominant optic atrophy, classic type (Orphanet:98673)
Autosomal dominant spastic paraplegia type 3 (Orphanet:100984)
BOR syndrome (Orphanet:107)
BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO (OMIM:610805)
Chronic respiratory distress with surfactant metabolism deficiency (Orphanet:217566)
Currarino triad (Orphanet:1552)
DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT (OMIM:609222)
DYSTONIA 24 (OMIM:615034)
EPILEPSY, FAMILIAL TEMPORAL LOBE, 4 (OMIM:611631)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Early-onset generalized limb-onset dystonia (Orphanet:256)
Familial Dupuytren contracture (Orphanet:79142)
Familial acute necrotizing encephalopathy (Orphanet:88619)
Familial clubfoot with or without associated lower limb anomalies (Orphanet:199315)
Familial congenital mirror movements (Orphanet:238722)
Familial focal epilepsy with variable foci (Orphanet:98820)
Familial leiomyomatosis (Orphanet:523)
Familial multiple meningioma (Orphanet:263662)
Familial papillary renal cell carcinoma (Orphanet:47044)
Familial paroxysmal ataxia (Orphanet:97)
Familial spontaneous pneumothorax (Orphanet:2903)
Familial temporal epilepsy (Orphanet:98819)
Fragile X syndrome (Orphanet:908)
Generalized epilepsy with febrile seizures-plus context (Orphanet:36387)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 9 (OMIM:610829)
Hemihypertrophy (Orphanet:2128)
Hereditary cerebral cavernous malformation (Orphanet:221061)
Hereditary coproporphyria (Orphanet:79273)
Hereditary pheochromocytoma-paraganglioma (Orphanet:29072)
Holoprosencephaly (Orphanet:2162)
Hot water reflex epilepsy (Orphanet:166412)
Hypokalemic periodic paralysis (Orphanet:681)
Idiopathic and/or familial pulmonary arterial hypertension (Orphanet:422)
LYMPHEDEMA, HEREDITARY, IB (OMIM:611944)
LYMPHEDEMA, HEREDITARY, IC (OMIM:613480)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA (OMIM:189490)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
MIRROR MOVEMENTS 2 (OMIM:614508)
Myoclonus-dystonia syndrome (Orphanet:36899)
Neuroblastoma (Orphanet:635)
Neurofibromatosis type 3 (Orphanet:93921)
OTOSCLEROSIS 3 (OMIM:608244)
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2 (OMIM:611147)
PORENCEPHALY 2 (OMIM:614483)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (OMIM:614742)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 (OMIM:614743)
PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Paroxysmal exertion-induced dyskinesia (Orphanet:98811)
Paroxysmal kinesigenic dyskinesia (Orphanet:98809)
Primary basilar impression (Orphanet:2285)
Primary dystonia, DYT6 type (Orphanet:98806)
RETINITIS PIGMENTOSA 11 (OMIM:600138)
Rapid-onset dystonia-parkinsonism (Orphanet:71517)
Rolandic epilepsy - speech dyspraxia (Orphanet:163721)
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
SCHWANNOMATOSIS 2 (OMIM:615670)
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
SPECIFIC LANGUAGE IMPAIRMENT 5 (OMIM:615432)
SPLIT-HAND/FOOT MALFORMATION 6 (OMIM:225300)
Spinocerebellar ataxia type 10 (Orphanet:98761)
Spinocerebellar ataxia type 14 (Orphanet:98763)
Tibial muscular dystrophy (Orphanet:609)
Tufted angioma (Orphanet:1063)
Von Willebrand disease type 1 (Orphanet:166078)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked myopathy with excessive autophagy (Orphanet:25980)