hereditary disorder
type of disorder
Bruton-type agammaglobulinemia
human disease
lethal allele
allele that cause the death of the organism that carries them
Epstein syndrome
disease
Femoral-facial syndrome
Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies
genetic disease
health problem caused by one or more abnormalities in the genome
hereditary sensory and autonomic neuropathy
congenital disorder of nervous system
Nathalie syndrome
medical condition
Fuhrmann syndrome
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly
cataract-intellectual disability-hypogonadism syndrome
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism
Goldblatt syndrome
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta
chromosome instability syndrome
hereditary disorder
Ramon syndrome
human disease
Fowler syndrome
human disease
Aase syndrome
human disease
hereditary neoplastic syndromes
human disease
W syndrome
rare hereditary syndrome
Gollop-Wolfgang complex
Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur
Gordon-Holmes syndrome
human disease
pancreatic agenesis
disease
absence of fingerprints-congenital milia syndrome
human disease
Alves syndrome
human disease
ANOTHER syndrome
human disease
Madras motor neuron disease
Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss
Myhre syndrome
medical condition
Thickened earlobes-conductive deafness syndrome
medical condition
Crane-Heise syndrome
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles
Snyder-Robinson syndrome
Human disease