Amish, Mennonite, and Hutterite
Genetic Disorder Database
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Disorders that include all given features will be listed.
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Select affected region
Metabolic
Central nervous system
Brain
Cranium
Scalp and Facial Hair Patterning
Facies
Ocular region
Eye
Nose
Maxilla and mandible
Oral region and mouth
Teeth
Ears
Neck, thorax, and vertebrae
Limbs
Limbs: nails, creases, dermatogylphics
Limbs: joints
Skin and hair
Cardiac
Abdominal
Renal
Genital
Endocrine and metabolism
Immune deficiency
Hematology-oncology
Unusual growth patterns
Behavioural
Reproduction
Respiratory
Muscle
Other
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amino acid disorder
encephalopathy
failure to thrive
hyperammonemia
hyperbilirubinemia
hypercholesterolemia
hyperglycinuria
hypoglycemia
jaundice
ketonuria
lactic acidosis
lethargy
liver disease
metabolic acidosis
mitchondrial disorder
myopathy
organic acid disorder
storage disease
ataxia
cerebral atrophy
choreoathetosis
coma
dementia
developmental delay
developmental regression
dystonia
hyperreflexia
hypertonia
hypotonia
lethargy
motor delay
motor delay
neurologic dysfunction
pachygyria
paralysis
peripheral neuropathy
seizures
tics
tremors
weakness
agenesis of corpus callosum
anencephaly
bilirubin encephalopathy
Dandy-Walker malformation
encephalocele
encephalopathy
holoprosencephaly
hydrocephalus
intracranial hemorrhage
lissencephaly
macrocephaly
meningomyelocele
microcephaly
transient ischemic attack
ventriculomegaly
acrocephaly
Brachycephaly
craniosynostosis
delayed closure of fontanelles
frontal bossing
prominent occiput
anterior upsweep - scalp
low hairline
scalp defect
coarse features
mask-like face
midfacial hypoplasia
round face
triangular face
blepharophimosis
epicanthal folds
hypertelorism
hypotelorism
lacrimal defects
lateral displacement of inner canthi
long eyelashes
nystagmus
periorbital fullness
prominent eyes
prominent supraorbital ridges
proptosis
ptosis
shallow orbital ridges
short palpebral fissure
slanted palpebral fissures
strabismus
synophrys
unusual flare of medial eyebrow
astigmatism
blue sclerae
buphthalmos
cataracts
coloboma
congenital amaurosis
corneal erosions
corneal opacity
decreased visual acuity
ectopia lentis
foveal hypoplasia
glaucoma
hemeralopia
hyperopia
impaired night vision
keratoconus
lens dislocation
megalocornea
microcornea
microphthalmos
myopia
nystagmus
ocular albinism
ocular telangiectasia
optic atrophy
photophobia
protanomaly
retinal dystrophy
retinitis pigmentosa
strabismus
unusual patterning or coloration of iris
anteverted nostrils
broad nasal bridge
choanal atresia
epistaxis
hypoplasia of nares
low nasal bridge
nasal polyps
prominent nasal bridge
prominent nose
small or short nose
malar hypoplasia
maxillary hypoplasia
micrognathia
midfacial hypoplasia
prognathism
abnormal philtrum
abnormalies of larynx
ankyloglossia
cleft lip
cleft or irregular tongue
cleft palate
downturned corners of mouth
dysarthria
high-arched palate
hypertrophied alveolar ridges
lip pits
macroglossia
macrostomia
microglossia
microstomia
oral frenula
prominent lips
anodontia
carious
dental cysts
early loss of teeth
enamel hypoplasia
hypodontia
irregular placement of teeth
late eruption of teeth
neonatal teeth
other teeth anomalies
deafness
hearing impairment
low-set ears
malformed auricles
microtia
preauricular tags or pits
cervical spine instability
gastroesophageal reflux
gynecomastia
hypoplasia of clavicles
laryngospasm
nipple anomaly
odontoid hypoplasia
other clavicular anomalies
other vertebral defects
pectus carinatum
pectus excavatum
rib defects
scoliosis
short neck
short ribs
short sternum
vocal cord paresis
webbed neck
arachnodactyly
brachydactyly
broad thumb
broad toe
clinodactyly of fifth fingers
cubitus valgus
fractures
limb reduction
metacarpal hypoplasia
metatarsal hypoplasia
patella dysplasia
polydactyly
radius hypoplasia
short limbs
small hands and feet
syndactyly
thumb hypoplasia
triphalangeal thumb
clubbing
nail dysplasia
nail hypoplasia
persistent fingertip pads
single transverse palmar crease
whorl dermal ridge pattern on fingertips
clubfoot
contractures
joint dislocation
joint hypermobility
alopecia
altered sweating
blistering
cutaneous telangiectasia
cutis marmorata
dermatitis
eczema
edema of hands and feet
hemangioma
hirsutism
hyperpigmented skin
hypopigmented skin
ichthyosis
loose redundant skin
melanoma
other hair abnormalities
other skin abormalities
photosensitive dermatitis
pilonidal cyst
pruritis
sacral dimple
skin dimples
sparse hair
thick skin
thin skin
vascular malformations
yellow hair
aortic dilation
aortic dissection
arrhythmia
atrial septal defect
bradycardia
cardiomyopathy
congenital heart defect
coronary atherosclerosis
ventricular septal defect
abdominal pain
abdominal wall defect
adenomatous polyps of the colon
anal atresia
bowel obstruction
cirrhosis
diarrhea
duodenal atresia
esophageal atresia
hepatomegaly
hernia
heterotaxy
Hirschsprung disease
jaundice
liver disease
malrotation
portal hypertension
pyloric stenosis
short umbilical cord
single umbilical artery
situs inversus
splenomegaly
steatorrhoea
tracheoesophageal fistula
umbilical anomaly
vomiting
dehydration
glomerulopathy
hyperkalemia
hypertension
hypokalemia
hyponatremia
kidney malformation
nephrotic syndrome
polydipsia
polyuria
proteinuria
renal agenesis
renal insufficiency
renal stones
anorectal malformations
bicornuate uterus
bifid scrotum
cryptorchidism
disorder of sexual differentiation
double vagina
hydrocele
hydrometrocolpos
hypergenitalism
hypogenitalism
hypoplasia of labia majora
hypospadias
menorrhagia
urogenital anomalies
vaginal atresia
vesicoureteral reflux
virilization
adrenal insufficiency
diabetes mellitus
hypercalcemia
hyperlipidemia
hyperthermia
hypocalcemia
hypogonadism
hypothyroidism
lipoatrophy
other endocrine abnormalities
pancreatic insufficiency
cell-mediated immunodeficiency
immunoglobin deficiency
lymphadenopathy
severe combined immunodeficiency
anemia
jaundice
leukocytosis
lymphoreticular malignancy
other bleeding tendency
other malignancy
sepsis
thrombocytopenia
asymmetry
dwarfism
growth deficiency
hydrops fetalis
ossification abnormalities
overgrowth
short stature
skeletal dysplasia
Autism Spectrum
depression
feeding difficulties
mania
absent vas deferens
impaired spermatogenesis
infertility
asthma
bronchospasm
chronic obstructive pulmonary disease
chronic productive cough
pulmonary hypoplasia
respiratory distress
respiratory infections
muscle wasting
muscle weakness
muscular pseudohypertrophy
myasthenia
myotonia
edema
fever
hypothermia
photosensitivity
sudden death
Seen In:
Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
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