Disease Directory

This condition is a rare, X-linked disorder that mainly affects the brain and the heart. It is characterized by intellectual disability and delayed ps...

X-linked intellectual disability-cerebellar hypoplasia syndrome, also known as OPHN1 syndrome, is a rare condition marked by a specific type of brain...

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome is a rare condition that appears to affect brain develop...

X-linked intellectual disability-craniofacioskeletal syndrome is a rare genetic condition affecting the bones, face, and brain. It is known for causin...

This condition is an X-linked syndromic disorder that primarily affects intellectual development and physical appearance. People with this condition h...

X-linked intellectual disability-epilepsy syndrome is a rare condition that has been recognized in specialized disease databases such as Orphanet and...

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is a rare condition that affects brain development and p...

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is a rare condition that has been reported in t...

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare condition that affects multiple parts of the body. P...

Information about the overall definition of X-linked intellectual disability-hypotonia-movement disorder syndrome is currently limited. This condition...

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic condition. It is marke...

X-linked intellectual disability-macrocephaly-macroorchidism syndrome is a rare condition observed in a single family over two generations. It is mark...

X-linked intellectual disability-plagiocephaly syndrome is a rare genetic condition. It is characterized by a severe intellectual deficit along with c...

X-linked intellectual disability-psychosis-macroorchidism syndrome is a rare genetic condition that affects brain development and physical characteris...

X-linked intellectual disability-retinitis pigmentosa syndrome is a condition seen in males and is passed down in an X-linked recessive pattern. Peopl...

X-linked intellectual disability-seizures-psoriasis syndrome is a rare condition that has been described in four male cousins. This condition is noted...

X-linked intellectual disability-short stature-overweight syndrome is a condition affecting many parts of the body. It is a multiple congenital anomal...

X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome is a rare condition that appears to affect multiple parts o...

X-linked lethal multiple pterygium syndrome is a rare condition described as the X‐linked form of lethal multiple pterygium syndrome. This means that...

X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that affects genotypic males. It is characterized by a type of...