autosomal dominant syndromic intellectual disability

Findings

No curated finding names autosomal dominant syndromic intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Where it sits

A kind of

• intellectual disability, autosomal dominant
• syndromic intellectual disability

Narrower terms (34)

• ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
• autism spectrum disorder due to AUTS2 deficiency
• autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
• Bohring-Opitz syndrome
• Bosch-Boonstra-Schaaf optic atrophy syndrome
• cardiac anomalies - developmental delay - facial dysmorphism syndrome
• CTCF-related neurodevelopmental disorder
• DYRK1A-related intellectual disability syndrome
• hereditary cryohydrocytosis with reduced stomatin
• Houge-Janssens syndrome 1
• intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
• intellectual developmental disorder with dysmorphic facies and ptosis
• intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
• intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
• intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
• intellectual disability-severe speech delay-mild dysmorphism syndrome
• intellectual disability-sparse hair-brachydactyly syndrome
• intellectual disability, autosomal dominant 13
• intellectual disability, autosomal dominant 48
• KBG syndrome
• micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
• Mowat-Wilson syndrome
• Myhre syndrome
• Pierpont syndrome
• Rubinstein-Taybi syndrome due to CREBBP mutations
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
• SATB2 associated disorder
• Schinzel-Giedion syndrome
• Schuurs-Hoeijmakers syndrome
• SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
• severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
• severe intellectual disability-progressive spastic diplegia syndrome
• SIN3A-related intellectual disability syndrome
• Ververi-Brady syndrome 1