Font Size
Trait Profiles
Trait profiles are short descriptions and explanations about a wide range of genetic conditions, written in family-friendly language by genetic counselors and physicians. You may view all profiles, profiles by first letter, or search them by name.
Genetic Syndromes
-
15q24 deletion
-
16p11.2 duplication
-
16p11.2 microdeletion
-
1p36 deletion syndrome
-
1q21.1 deletion
-
1q21.1 duplication
-
22q11.2 deletion syndrome
-
3-mcc deficiency
-
5-alpha reductase deficiency
-
acute intermittent porphyria
-
adams oliver syndrome
-
adult iron overload
-
aicardi syndrome
-
alkaptonuria
-
alpha-1 antitrypsin deficiency
-
alpha-thalassemia
-
alport syndrome
-
alstrom syndrome
-
androgen insensitivity syndrome
-
angelman syndrome
-
apert syndrome
-
arrhythmia right ventricular dysplasia
-
asl deficiency
-
beckwith-wiedemann syndrome
-
best vitelliform macular dystrophy
-
beta ketothiolase deficiency
-
beta-thalassemia
-
biotinidase deficiency
-
birt-hogg-dube syndrome
-
brugada syndrome
-
campomelic dysplasia
-
carney complex
-
cfc syndrome
-
charcot marie tooth disease
-
charge syndrome
-
char syndrome
-
choroideremia
-
citrullinemia type 1
-
citrullinemia type 2
-
classic galactosemia
-
cmtc
-
congenital adrenal hyperplasia
-
congenital central hypoventilate syndrome
-
congenital stationary night blindness
-
cornelia de lange syndrome
-
costello syndrome
-
cp ventricular tachycardia
-
cystic fibrosis
-
diamond blackfan anemia
-
dilated heart muscle disease
-
distal arthrogryposis type 1 and type 2b
-
down syndrome
-
duane syndrome
-
duchenne / becker muscular dystrophy
-
dyskeratosis congenita
-
dystrophic epidermolysis bullosa
-
ehlers-danlos syndrome - hypermobility type
-
ehlers-danlos syndrome - vascular type
-
epidermolysis bullosa simplex
-
epilepsy in females with mental retardation
-
fabry disease
-
familial adenomatous polyposis
-
familial creutzfeldt-jakob disease
-
familial high cholesterol
-
familial medullary thyroid cancer
-
fragile x-associated poi
-
fragile x-associated tremor/ataxia syndrome
-
fragile xe syndrome
-
fragile x syndrome
-
freeman-sheldon syndrome
-
friedreich ataxia
-
gaucher disease
-
glutaric acidemia type 1
-
glycogen storage disease type 1
-
glycogen storage disease type 9
-
goltz syndrome
-
hallervorden-spatz syndrome
-
hemophilia a
-
hemophilia b
-
hereditary hemorrhagic telangiectasia
-
hereditary pgl-pcc syndrome
-
hermansky-pudlak syndrome
-
hmg coa lyase deficiency
-
holocarboxylase synthetase deficiency
-
holt-oram syndrome
-
huntington disease
-
hypertrophic heart muscle disease
-
hypochondroplasia
-
hypohidrotic ectodermal dysplasia
-
inherited form of excess manganese
-
inherited form of high homocysteine
-
isovaleric acidemia
-
joubert syndrome
-
junctional epidermolysis bullosa
-
juvenile polyposis syndrome
-
kabuki syndrome
-
kallmann syndrome
-
klinefelter syndrome
-
koolen-de vries syndrome
-
lchad deficiency
-
leber hereditary optic neuropathy
-
legius syndrome
-
leopard syndrome
-
li-fraumeni syndrome
-
limb girdle muscular dystrophy
-
loeys-dietz syndrome
-
long qt syndrome
-
lynch syndrome
-
lysosomal acid lipase deficiency
-
malignant hyperthermia susceptibility
-
maple syrup urine disease
-
marfan syndrome
-
maturity-onset diabetes of the young
-
mcad deficiency
-
melas
-
menkes syndrome
-
merrf
-
methylmalonic acidemia
-
miller syndrome
-
mps type 1
-
mps type 2
-
mps type 3
-
mps type 4
-
mps type 6
-
mucolipidosis 4
-
multiple endocrine neoplasia type 1
-
multiple endocrine neoplasia type 2
-
muscle phosphorylase kinase deficiency
-
mutyh-associated polyposis
-
myotonic dystrophy type 2
-
nevoid basal cell carcinoma syndrome
-
nf type 1
-
nf type 2
-
niemann-pick type c
-
noonan syndrome
-
pelizaeus merzbacher disease
-
pendred syndrome
-
peutz-jeghers syndrome
-
pku
-
pompe disease
-
prader-willi syndrome
-
primary carnitine deficiency
-
propionic acidemia
-
pten hamartoma tumor syndrome
-
rathbun disease
-
retinitis pigmentosa
-
retinoblastoma
-
rett syndrome
-
sandhoff disease
-
scalp-ear-nipple syndrome
-
scn1a-related seizure disorder
-
short-limbed dwarfism
-
sickle cell disease
-
smith-lemli-opitz syndrome
-
sotos syndrome
-
spinal muscular atrophy
-
stargardt disease
-
stickler syndrome
-
sturge-weber syndrome
-
tay-sachs disease
-
testing
-
thoracic aortic aneurysms and dissections
-
timothy syndrome
-
treacher collins syndrome
-
trifunctional protein deficiency
-
tuberous sclerosis complex
-
turner syndrome
-
tyrosinemia type 1
-
usher syndrome
-
van der woude syndrome
-
vlcad deficiency
-
von hippel lindau syndrome
-
von willebrand disease
-
williams syndrome
-
wolf-hirschhorn syndrome
-
wt1-related wilms tumor
-
xeroderma pigmentosum
177
Metabolic Disorders
-
3-mcc deficiency
-
alkaptonuria
-
asl deficiency
-
beta ketothiolase deficiency
-
biotinidase deficiency
-
citrullinemia type 1
-
citrullinemia type 2
-
classic galactosemia
-
congenital adrenal hyperplasia
-
fabry disease
-
gaucher disease
-
glutaric acidemia type 1
-
glycogen storage disease type 1
-
glycogen storage disease type 9
-
hmg coa lyase deficiency
-
holocarboxylase synthetase deficiency
-
inherited form of high homocysteine
-
isovaleric acidemia
-
lchad deficiency
-
maple syrup urine disease
-
mcad deficiency
-
methylmalonic acidemia
-
mps type 1
-
mps type 2
-
mps type 3
-
mps type 4
-
mps type 6
-
mucolipidosis 4
-
muscle phosphorylase kinase deficiency
-
niemann-pick type c
-
pku
-
pompe disease
-
primary carnitine deficiency
-
propionic acidemia
-
sandhoff disease
-
tay-sachs disease
-
trifunctional protein deficiency
-
tyrosinemia type 1
-
vlcad deficiency
39
Disease Risk
- Blood
- Brain and Nervous System
-
Cancer
-
birt-hogg-dube syndrome
-
carney complex
-
cdkn2a malignant melanoma syndrome
-
familial adenomatous polyposis
-
familial medullary thyroid cancer
-
hereditary breast and ovarian cancer syndrome
-
hereditary diffuse gastric cancer
-
hereditary papillary renal cell carcinoma
-
hereditary pgl-pcc syndrome
-
hereditary uterine fibroids and renal cell cancer
-
juvenile polyposis syndrome
-
li-fraumeni syndrome
-
lynch syndrome
-
multiple endocrine neoplasia type 1
-
multiple endocrine neoplasia type 2
-
mutyh-associated polyposis
-
neuroblastoma susceptibility
-
nevoid basal cell carcinoma syndrome
-
peutz-jeghers syndrome
-
pten hamartoma tumor syndrome
-
retinoblastoma
-
tuberous sclerosis complex
-
von hippel lindau syndrome
-
wt1-related wilms tumor
24 -
- Digestive System
- Heart and Lungs
- Metabolism and Hormones
-
Muscles and Bones
0
- Senses
8
Medication Response
Carrier Status
-
3-mcc deficiency
-
5-alpha reductase deficiency
-
adult iron overload
-
alkaptonuria
-
alpha-thalassemia
-
alport syndrome
-
alstrom syndrome
-
amyotrophic lateral sclerosis
-
androgen insensitivity syndrome
-
asl deficiency
-
best vitelliform macular dystrophy
-
beta ketothiolase deficiency
-
beta-thalassemia
-
biotinidase deficiency
-
choroideremia
-
citrullinemia type 1
-
citrullinemia type 2
-
classic galactosemia
-
congenital adrenal hyperplasia
-
congenital stationary night blindness
-
cp ventricular tachycardia
-
cystic fibrosis
-
diamond blackfan anemia
-
dilated heart muscle disease
-
duchenne / becker muscular dystrophy
-
dystrophic epidermolysis bullosa
-
fabry disease
-
friedreich ataxia
-
gaucher disease
-
glutaric acidemia type 1
-
glycogen storage disease type 1
-
glycogen storage disease type 9
-
hallervorden-spatz syndrome
-
hemophilia a
-
hemophilia b
-
hermansky-pudlak syndrome
-
hmg coa lyase deficiency
-
holocarboxylase synthetase deficiency
-
hypohidrotic ectodermal dysplasia
-
inherited form of excess manganese
-
inherited form of high homocysteine
-
isovaleric acidemia
-
joubert syndrome
-
junctional epidermolysis bullosa
-
kallmann syndrome
-
lchad deficiency
-
limb girdle muscular dystrophy
-
lysosomal acid lipase deficiency
-
maple syrup urine disease
-
mcad deficiency
-
menkes syndrome
-
methylmalonic acidemia
-
miller syndrome
-
mps type 1
-
mps type 2
-
mps type 3
-
mps type 4
-
mps type 6
-
mucolipidosis 4
-
muscle phosphorylase kinase deficiency
-
mutyh-associated polyposis
-
niemann-pick type c
-
nonsyndromic congenital hearing loss
-
pelizaeus merzbacher disease
-
pendred syndrome
-
pku
-
pompe disease
-
primary carnitine deficiency
-
propionic acidemia
-
rathbun disease
-
retinitis pigmentosa
-
sandhoff disease
-
sickle cell disease
-
smith-lemli-opitz syndrome
-
spinal muscular atrophy
-
stargardt disease
-
stickler syndrome
-
tay-sachs disease
-
testing2
-
trifunctional protein deficiency
-
tyrosinemia type 1
-
usher syndrome
-
vlcad deficiency
-
von willebrand disease
-
xeroderma pigmentosum
85
Newborn Screening Conditions