Rare Disease Library

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome

ZIC1-related syndromic craniosynostosis

Cryptorchidism-arachnodactyly-intellectual disability syndrome

Van Benthem-Driessen-Hanveld syndrome

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Difference of sex development-intellectual disability syndrome

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

Digital anomalies-intellectual disability-short stature syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

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

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Growth delay-intellectual disability-hepatopathy syndrome

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose syndrome

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Cantalamessa-Baldini-Ambrosi syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Jagell-Holmgren-Hofer syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Pilarowski-Bjornsson syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Intellectual disability-epilepsy-extrapyramidal syndrome

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Intellectual disability-short stature-hypertelorism syndrome

Stoll-Géraudel-Chauvin syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Intellectual disability-strabismus syndrome

Kahrizi syndrome

Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome