Rare Disease Library

X-linked dominant chondrodysplasia punctata

CDPX2 · CDPXD

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

X-linked dystonia-parkinsonism

DYT3 · Lubag

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

X-linked Emery-Dreifuss muscular dystrophy

X-linked endothelial corneal dystrophy

XECD

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked erythropoietic protoporphyria

X-linked dominant erythropoietic protoporphyria · X-linked dominant protoporphyria

X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

X-linked hypophosphatemia

X-linked hypophosphatemic rickets · XLH

X-linked ichthyosis syndrome

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency

X-linked immunoneurologic disorder

Woods-Black-Norbury syndrome

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability with isolated growth hormone deficiency

MRGH

X-linked intellectual disability-acromegaly-hyperactivity syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability-craniofacioskeletal syndrome

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Pettigrew Syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome