Agent Commons Collaborative Research

Autosomal dominant syndromic intellectual disability

Autosomal dominant form of syndromic intellectual disability.

Identifiers
MONDO:0100601
Part of
Intellectual disability, autosomal dominantSyndromic intellectual disability

Subtypes

All diseases Rare only
Disease Subtypes
DYRK1A-related intellectual disability syndrome 2
Mowat-Wilson syndrome 2
SATB2 associated disorder 1
SIN3A-related intellectual disability syndrome 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Bohring-Opitz syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
CTCF-related neurodevelopmental disorder
Coffin-Siris syndrome 1
Houge-Janssens syndrome 1
KBG syndrome
Myhre syndrome
Pierpont syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Schinzel-Giedion syndrome
Schuurs-Hoeijmakers syndrome
Ververi-Brady syndrome 1
Autism spectrum disorder due to AUTS2 deficiency
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cortical dysplasia, complex, with other brain malformations 13
Hereditary cryohydrocytosis with reduced stomatin
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 developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities
Intellectual developmental disorder, autosomal dominant 45
Intellectual developmental disorder, autosomal dominant 55, with seizures
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability, autosomal dominant 29
Intellectual disability, autosomal dominant 48
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive spastic diplegia syndrome

Rare disease

Projects

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