Rare Disease Library

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability 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

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

OBSOLETE: Atrichia-intellectual disability and growth delay syndrome

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

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

OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: Genetic MCA/variable MR · OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

OBSOLETE: MCA/variable MR · OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Pterygium colli-intellectual disability-digital anomalies syndrome

Khalifa-Graham syndrome

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Rare genetic syndromic intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

IDMDC

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-intellectual disability due to hydroxylysinuria 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-short stature-behavioral abnormalities-facial dysmorphism syndrome

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome

Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome

Richieri Costa-Guion Almeida syndrome

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

Temple-Baraitser syndrome

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

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

Thumb stiffness-brachydactyly-intellectual disability syndrome

Piussan-Lenaerts-Mathieu syndrome