Autosomal dominant syndromic intellectual disability

Part of

Sub-types of Autosomal dominant syndromic intellectual disability

• Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
• KBG syndrome 2 trials
• Mowat-Wilson syndrome 2 trials
  2 sub-types

  • Mowat-Wilson syndrome due to a ZEB2 point mutation 0 trials
  • Mowat-Wilson syndrome due to monosomy 2q22 0 trials
• Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 trials
• Bohring-Opitz syndrome 1 trial
• Schuurs-Hoeijmakers syndrome 1 trial
• Autism spectrum disorder due to AUTS2 deficiency 1 trial
• Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
• SATB2 associated disorder 0 trials · 1 incl. sub-types
  1 sub-type

  • Chromosome 2q32-q33 deletion 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
  2 sub-types

  • DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 0 trials
  • Intellectual disability syndrome due to a DYRK1A point mutation 0 trials
• 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
  1 sub-type

  • SIN3A-related intellectual disability syndrome due to a point mutation 0 trials
• 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