Phenotypic variability

Symptom Information:

Symptom ID: HPO:0003812
Synonyms:
CLINICAL HETEROGENEITY [HPO:0003812]
Highly variable clinical phenotype [HPO:0003812]
Highly variable phenotype [HPO:0003812]
Highly variable phenotype and severity [HPO:0003812]
Highly variable phenotype, even within families [HPO:0003812]
Variable phenotype [HPO:0003812]
Variable phenotypic severity [HPO:0003812]
Quality:
Cross references:
Is a (Direct Parents):
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 129 / 7739
Resource:

All diseases associated with this symptom:

15q13.3 microdeletion syndrome (Orphanet:199318)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16p13.3 microduplication syndrome (Orphanet:96078)
17p11.2 microduplication syndrome (Orphanet:1713)
1p36 deletion syndrome (Orphanet:1606)
1q41q42 microdeletion syndrome (Orphanet:250999)
4-hydroxybutyric aciduria (Orphanet:22)
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (Orphanet:753)
ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Acro-pectoral syndrome (Orphanet:85203)
Acrocallosal syndrome (Orphanet:36)
Acrocephalopolydactyly (Orphanet:221054)
Adams-Oliver syndrome (Orphanet:974)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Albright hereditary osteodystrophy (Orphanet:665)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Autosomal dominant Charcot-Marie-Tooth disease type 2O (Orphanet:284232)
Autosomal dominant optic atrophy and congenital deafness (Orphanet:3212)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Benign familial chorea (Orphanet:1429)
Benign familial neonatal seizures (Orphanet:1949)
CHARGE syndrome (Orphanet:138)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
Charcot-Marie-Tooth disease type 4C (Orphanet:99949)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Coats plus syndrome (Orphanet:313838)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Cornelia de Lange syndrome (Orphanet:199)
Corticosteroid-binding globulin deficiency (Orphanet:199247)
D-glyceric aciduria (Orphanet:941)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 (OMIM:224230)
Desmosterolosis (Orphanet:35107)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dihydropyrimidinuria (Orphanet:38874)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 6p (Orphanet:96125)
Dyskeratosis congenita (Orphanet:1775)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 (OMIM:613060)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3 (OMIM:608762)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT (OMIM:600638)
FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME (OMIM:246570)
Familial amyloid polyneuropathy (Orphanet:85447)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fibrous dysplasia of bone (Orphanet:249)
Gerstmann-Straussler-Scheinker syndrome (Orphanet:356)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Giant axonal neuropathy (Orphanet:643)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA (OMIM:614897)
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency (Orphanet:71212)
Hyperprolinemia type 1 (Orphanet:419)
IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
IVIC syndrome (Orphanet:2307)
Immunodeficiency with factor H anomaly (Orphanet:200421)
Inclusion body myositis (Orphanet:611)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Joubert syndrome (Orphanet:475)
Joubert syndrome 18 (OMIM:614815)
Joubert syndrome 2 (OMIM:608091)
Knobloch syndrome (Orphanet:1571)
LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3,WITH OR WITHOUT GLOMERULONEPHRITIS (OMIM:613913)
Laing distal myopathy (Orphanet:59135)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Lysinuric protein intolerance (Orphanet:470)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Microduplication Xp11.22-p11.23 syndrome (Orphanet:217377)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Moderate multiminicore disease with hand involvement (Orphanet:178145)
Moebius syndrome (Orphanet:570)
Monocytopenia with susceptibility to infections (Orphanet:228423)
Monosomy 18q (Orphanet:1600)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Multiple system atrophy (Orphanet:102)
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Nemaline myopathy (Orphanet:607)
Nephronophthisis 14 (OMIM:614844)
Nephronophthisis 15 (OMIM:614845)
Neuroferritinopathy (Orphanet:157846)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Obesity due to prohormone convertase I deficiency (Orphanet:71528)
Okihiro syndrome (Orphanet:93293)
Paramyotonia congenita of Von Eulenburg (Orphanet:684)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pseudoaminopterin syndrome (Orphanet:221120)
Pseudopseudohypoparathyroidism (Orphanet:79445)
Renal coloboma syndrome (Orphanet:1475)
Renal pseudohypoaldosteronism type 1 (Orphanet:171871)
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (OMIM:607565)
Schilbach-Rott syndrome (Orphanet:2353)
Septo-optic dysplasia (Orphanet:3157)
Spastic paraplegia type 2 (Orphanet:99015)
Spinocerebellar ataxia type 29 (Orphanet:208513)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
TMCO1 defect syndrome (Orphanet:228407)
TMEM165-CDG (Orphanet:314667)
TUBEROUS SCLEROSIS 2 (OMIM:613254)
Thomsen and Becker disease (Orphanet:614)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Tuberous sclerosis (Orphanet:805)
VERHEIJ SYNDROME (OMIM:615583)
Von Hippel-Lindau disease (Orphanet:892)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
X-linked hypophosphatemia (Orphanet:89936)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Xeroderma pigmentosum complementation group F (Orphanet:276264)