Syndromic intellectual disability

Part of

Sub-types of Syndromic intellectual disability

• Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types
  34 sub-types

  • Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
  • KBG syndrome 2 trials
  • Mowat-Wilson syndrome 2 trials Sub-types →
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 trials
  • Bohring-Opitz syndrome 1 trial
  • SATB2 associated disorder 0 trials · 1 incl. sub-types Sub-types →
  • Schuurs-Hoeijmakers syndrome 1 trial
  • Autism spectrum disorder due to AUTS2 deficiency 1 trial
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
  • ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
  • Bosch-Boonstra-Schaaf optic atrophy syndrome 0 trials
  • CTCF-related neurodevelopmental disorder 0 trials
  • DYRK1A-related intellectual disability syndrome 0 trials Sub-types →
  • Houge-Janssens syndrome 1 0 trials
  • Myhre syndrome 0 trials
  • Pierpont syndrome 0 trials
  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome 0 trials
  • SIN3A-related intellectual disability syndrome 0 trials Sub-types →
  • Schinzel-Giedion syndrome 0 trials
  • Ververi-Brady syndrome 1 0 trials
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
  • Hereditary cryohydrocytosis with reduced stomatin 0 trials
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 trials
  • Intellectual developmental disorder with dysmorphic facies and ptosis 0 trials
  • Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 trials
  • Intellectual disability, autosomal dominant 13 0 trials
  • Intellectual disability, autosomal dominant 48 0 trials
  • Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
  • Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
• X-linked syndromic intellectual disability 0 trials · 12 incl. sub-types
  81 sub-types

  • Allan-Herndon-Dudley syndrome 6 trials
  • Syndromic X-linked intellectual disability Lubs type 3 trials Sub-types →
  • MEHMO syndrome 1 trial
  • Syndromic X-linked intellectual disability 5 1 trial
  • Syndromic X-linked intellectual disability Snyder type 1 trial
  • ATP6AP2-related disorder 0 trials Sub-types →
  • ATR-X-related syndrome 0 trials Sub-types →
  • Borjeson-Forssman-Lehmann syndrome 0 trials
  • CASK-related intellectual disability 0 trials Sub-types →
  • Coffin-Lowry syndrome 0 trials
  • MED12-related intellectual disability syndrome 0 trials Sub-types →
  • NAA10-related syndrome 0 trials Sub-types →
  • Paganini-Miozzo syndrome 0 trials
  • Partington syndrome 0 trials
  • Prieto syndrome 0 trials
  • Renpenning syndrome 0 trials Sub-types →
  • SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder 0 trials
  • Wilson-Turner syndrome 0 trials
  • X-linked intellectual disability with hypopituitarism 0 trials Sub-types →
  • X-linked intellectual disability with isolated growth hormone deficiency 0 trials
  • X-linked intellectual disability, Cabezas type 0 trials
  • X-linked intellectual disability, Cantagrel type 0 trials
  • X-linked intellectual disability, Cilliers type 0 trials
  • X-linked intellectual disability, Pai type 0 trials
  • X-linked intellectual disability, Schimke type 0 trials
  • X-linked intellectual disability, Schutz type 0 trials
  • X-linked intellectual disability, Seemanova type 0 trials
  • X-linked intellectual disability, Stevenson type 0 trials
  • X-linked intellectual disability, Stocco dos Santos type 0 trials
  • X-linked intellectual disability, Stoll type 0 trials
  • X-linked intellectual disability, van Esch type 0 trials
  • X-linked intellectual disability-acromegaly-hyperactivity syndrome 0 trials
  • X-linked intellectual disability-ataxia-apraxia syndrome 0 trials
  • X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 0 trials
  • X-linked intellectual disability-cerebellar hypoplasia syndrome 0 trials
  • X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 0 trials
  • X-linked intellectual disability-craniofacioskeletal syndrome 0 trials
  • X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
  • X-linked intellectual disability-epilepsy syndrome 0 trials Sub-types →
  • X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
  • X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
  • X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
  • X-linked intellectual disability-hypotonia-movement disorder syndrome 0 trials
  • X-linked intellectual disability-macrocephaly-macroorchidism syndrome 0 trials
  • X-linked intellectual disability-plagiocephaly syndrome 0 trials
  • X-linked intellectual disability-precocious puberty-obesity syndrome 0 trials
  • X-linked intellectual disability-psychosis-macroorchidism syndrome 0 trials
  • X-linked intellectual disability-retinitis pigmentosa syndrome 0 trials
  • X-linked intellectual disability-seizures-psoriasis syndrome 0 trials
  • X-linked intellectual disability-short stature-overweight syndrome 0 trials
  • X-linked intellectual disability-spastic quadriparesis syndrome 0 trials
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 0 trials
  • Early-onset parkinsonism-intellectual disability syndrome 0 trials
  • Fried syndrome 0 trials
  • Intellectual developmental disorder, X-linked, syndromic 37 0 trials
  • Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 trials
  • Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 trials
  • Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 trials
  • Intellectual disability, X-linked 49 0 trials
  • Intellectual disability, X-linked 99, syndromic, female-restricted 0 trials
  • Intellectual disability, X-linked syndromic, Turner type 0 trials
  • Intellectual disability, X-linked, syndromic 33 0 trials
  • Intellectual disability, X-linked, syndromic, 35 0 trials
  • Intellectual disability, X-linked, syndromic, Bain type 0 trials
  • Intellectual disability, X-linked, syndromic, Houge type 0 trials
  • Severe X-linked intellectual disability, Gustavson type 0 trials
  • Skeletal dysplasia-intellectual disability syndrome 0 trials
  • Syndromic X-linked intellectual disability 12 0 trials
  • Syndromic X-linked intellectual disability 14 0 trials
  • Syndromic X-linked intellectual disability 17 0 trials
  • Syndromic X-linked intellectual disability 34 0 trials
  • Syndromic X-linked intellectual disability 7 0 trials
  • Syndromic X-linked intellectual disability 94 0 trials
  • Syndromic X-linked intellectual disability Abidi type 0 trials
  • Syndromic X-linked intellectual disability Chudley-Schwartz type 0 trials
  • Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
  • Syndromic X-linked intellectual disability Nascimento type 0 trials
  • Syndromic X-linked intellectual disability Raymond type 0 trials
  • Syndromic X-linked intellectual disability Shashi type 0 trials
  • Syndromic X-linked intellectual disability Shrimpton type 0 trials
  • Syndromic X-linked intellectual disability Siderius type 0 trials
• Smith-Magenis syndrome 5 trials
• Rubinstein-Taybi syndrome 3 trials
  3 sub-types

  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
• Autosomal recessive syndromic intellectual disability 0 trials · 1 incl. sub-types
  7 sub-types

  • Cohen syndrome 1 trial
  • Al Kaissi syndrome 0 trials
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
  • Intellectual developmental disorder with neuropsychiatric features 0 trials
  • Intellectual disability, autosomal recessive 53 0 trials
  • Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 trials
  • Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
• Dyneinopathy 0 trials · 1 incl. sub-types
  2 sub-types

  • Charcot-Marie-Tooth disease axonal type 2O 1 trial
  • Intellectual disability, autosomal dominant 13 0 trials
• 2p25.3 microduplication syndrome 0 trials
• 3q27.3 microdeletion syndrome 0 trials
• 7p22.1 microduplication syndrome 0 trials
• 9p13 microdeletion syndrome 0 trials
• 9q31.1q31.3 microdeletion syndrome 0 trials
• 9q33.3q34.11 microdeletion syndrome 0 trials
• AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 trials
• CK syndrome 0 trials
• Aplasia cutis-enamel dysplasia syndrome 0 trials
• Intellectual disability, Buenos-Aires type 0 trials
• Intellectual disability, Wolff type 0 trials