Rare Disease Library

Congenital insensitivity to pain with severe intellectual disability

Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Cardiocranial syndrome, Pfeiffer type

Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

MCA without intellectual disability · Multiple congenital anomalies without intellectual disability with or without dysmorphism

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Non-progressive cerebellar ataxia with intellectual disability

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome

OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

Rare genetic intellectual disability

Rare intellectual disability

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

X-linked intellectual disability, Pai type