Condition report · Psikiyatrik

Zihinsel Yetersizlik

Kalıtsal zihinsel bozukluklar, zihinsel işlev bozukluğuyla ilişkili çok sayıda durumu kapsar. Bu durumların birçoğu X'e bağlıdır.

A condition report looks for rare variants known to cause the conditions it covers.

Her kitle birlikte dahildir

Raporunuzun kapsadığı konular

zihinsel yetersizlik

Analiz edilen genler

Diğer adları

intellectual disabilities

373 ilgili alt tip içerir ↓

2p25.3 microduplication syndrome
3q27.3 microdeletion syndrome
7p22.1 microduplication syndrome
9p13 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
adenosine kinase deficiency
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Al Kaissi syndrome
Al-Raqad syndrome
Allan-Herndon-Dudley syndrome
alpha thalassemia-X-linked intellectual disability syndrome
aplasia cutis-enamel dysplasia syndrome
ATP6AP2-related disorder
ATR-X-related syndrome
autism spectrum disorder due to AUTS2 deficiency
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant non-syndromic intellectual disability
autosomal dominant syndromic intellectual disability
autosomal recessive non-syndromic intellectual disability
autosomal recessive syndromic intellectual disability
blepharophimosis - intellectual disability syndrome, MKB type
Bohring-Opitz syndrome
Borjeson-Forssman-Lehmann syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
CASK-related intellectual disability
Charcot-Marie-Tooth disease axonal type 2O
chromosome 16p13.3 deletion syndrome
chromosome 2q32-q33 deletion syndrome
chromosome Xp11.22 duplication syndrome
chromosome Xq28 duplication syndrome
CK syndrome
Clark-Baraitser syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome 1
Cohen syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
cortical dysplasia, complex, with other brain malformations 13
CTCF-related neurodevelopmental disorder
developmental and epileptic encephalopathy, 8
developmental and epileptic encephalopathy, 9
distal Xq28 microduplication syndrome
dyneinopathy
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
early-onset parkinsonism-intellectual disability syndrome
FG syndrome 1
FG syndrome 4
FRAXE intellectual disability
fried syndrome
glycosylphosphatidylinositol biosynthesis defect 16
hamel cerebro-palato-cardiac syndrome
hereditary cryohydrocytosis with reduced stomatin
Houge-Janssens syndrome 1
intellectual developmental disorder 59
intellectual developmental disorder 60 with seizures
intellectual developmental disorder 61
intellectual developmental disorder 62
intellectual developmental disorder and retinitis pigmentosa; IDDRP
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
intellectual developmental disorder with dysmorphic facies and ptosis
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
intellectual developmental disorder with neuropsychiatric features
intellectual developmental disorder with polymicrogyria and seizures
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 53
intellectual developmental disorder, autosomal dominant 54
intellectual developmental disorder, autosomal dominant 55, with seizures
intellectual developmental disorder, autosomal dominant 63, with macrocephaly
intellectual developmental disorder, autosomal dominant 64
intellectual developmental disorder, autosomal dominant 65
intellectual developmental disorder, autosomal dominant 66
intellectual developmental disorder, autosomal dominant 67
intellectual developmental disorder, autosomal dominant 68
intellectual developmental disorder, autosomal dominant 69
intellectual developmental disorder, autosomal dominant 70
intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
intellectual developmental disorder, autosomal dominant 72
intellectual developmental disorder, autosomal dominant 73
intellectual developmental disorder, autosomal dominant 74
intellectual developmental disorder, autosomal dominant 75
intellectual developmental disorder, autosomal dominant 76
intellectual developmental disorder, autosomal recessive 58
intellectual developmental disorder, autosomal recessive 63
intellectual developmental disorder, autosomal recessive 67
intellectual developmental disorder, autosomal recessive 68
intellectual developmental disorder, autosomal recessive 69
intellectual developmental disorder, autosomal recessive 70
intellectual developmental disorder, autosomal recessive 71
intellectual developmental disorder, autosomal recessive 72
intellectual developmental disorder, autosomal recessive 73
intellectual developmental disorder, autosomal recessive 74
intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
intellectual developmental disorder, autosomal recessive 76
intellectual developmental disorder, autosomal recessive 77
intellectual developmental disorder, autosomal recessive 78
intellectual developmental disorder, autosomal recessive 79
intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
intellectual developmental disorder, autosomal recessive 81
intellectual developmental disorder, autosomal recessive 82
intellectual developmental disorder, autosomal recessive 83
intellectual developmental disorder, X-linked 108
intellectual developmental disorder, X-linked 110
intellectual developmental disorder, X-linked 111
intellectual developmental disorder, X-linked 112
intellectual developmental disorder, X-linked 113
intellectual developmental disorder, X-linked 114
intellectual developmental disorder, X-linked, syndromic 37
intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
intellectual developmental disorder, X-linked, syndromic, Pilorge type
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
intellectual disability syndrome due to a DYRK1A point mutation
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-hypotonic facies syndrome, X-linked, 1
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
intellectual disability, autosomal dominant 1
intellectual disability, autosomal dominant 10
intellectual disability, autosomal dominant 11
intellectual disability, autosomal dominant 14
intellectual disability, autosomal dominant 15
intellectual disability, autosomal dominant 16
intellectual disability, autosomal dominant 2
intellectual disability, autosomal dominant 22
intellectual disability, autosomal dominant 24
intellectual disability, autosomal dominant 29
intellectual disability, autosomal dominant 3
intellectual disability, autosomal dominant 33
intellectual disability, autosomal dominant 34
intellectual disability, autosomal dominant 38
intellectual disability, autosomal dominant 39
intellectual disability, autosomal dominant 4
intellectual disability, autosomal dominant 40
intellectual disability, autosomal dominant 41
intellectual disability, autosomal dominant 42
intellectual disability, autosomal dominant 43
intellectual disability, autosomal dominant 46
intellectual disability, autosomal dominant 47
intellectual disability, autosomal dominant 48
intellectual disability, autosomal dominant 5
intellectual disability, autosomal dominant 50
intellectual disability, autosomal dominant 51
intellectual disability, autosomal dominant 52
intellectual disability, autosomal dominant 56
intellectual disability, autosomal dominant 57
intellectual disability, autosomal dominant 58
intellectual disability, autosomal dominant 6
intellectual disability, autosomal dominant 9
intellectual disability, autosomal recessive
intellectual disability, autosomal recessive 1
intellectual disability, autosomal recessive 10
intellectual disability, autosomal recessive 11
intellectual disability, autosomal recessive 12
intellectual disability, autosomal recessive 13
intellectual disability, autosomal recessive 14
intellectual disability, autosomal recessive 16
intellectual disability, autosomal recessive 18
intellectual disability, autosomal recessive 19
intellectual disability, autosomal recessive 2
intellectual disability, autosomal recessive 23
intellectual disability, autosomal recessive 24
intellectual disability, autosomal recessive 25
intellectual disability, autosomal recessive 27
intellectual disability, autosomal recessive 28
intellectual disability, autosomal recessive 29
intellectual disability, autosomal recessive 3
intellectual disability, autosomal recessive 30
intellectual disability, autosomal recessive 31
intellectual disability, autosomal recessive 33
intellectual disability, autosomal recessive 34
intellectual disability, autosomal recessive 4
intellectual disability, autosomal recessive 42
intellectual disability, autosomal recessive 43
intellectual disability, autosomal recessive 44
intellectual disability, autosomal recessive 45
intellectual disability, autosomal recessive 46
intellectual disability, autosomal recessive 47
intellectual disability, autosomal recessive 5
intellectual disability, autosomal recessive 50
intellectual disability, autosomal recessive 51
intellectual disability, autosomal recessive 52
intellectual disability, autosomal recessive 53
intellectual disability, autosomal recessive 54
intellectual disability, autosomal recessive 56
intellectual disability, autosomal recessive 57
intellectual disability, autosomal recessive 59
intellectual disability, autosomal recessive 6
intellectual disability, autosomal recessive 60
intellectual disability, autosomal recessive 61
intellectual disability, autosomal recessive 64
intellectual disability, autosomal recessive 65
intellectual disability, autosomal recessive 66
intellectual disability, autosomal recessive 7
intellectual disability, autosomal recessive 9
intellectual disability, Buenos-Aires type
intellectual disability, FRA12A type
intellectual disability, Wolff type
intellectual disability, X-linked 1
intellectual disability, X-linked 100
intellectual disability, X-linked 101
intellectual disability, X-linked 102
intellectual disability, X-linked 103
intellectual disability, X-linked 104
intellectual disability, X-linked 105
intellectual disability, X-linked 106
intellectual disability, X-linked 107
intellectual disability, X-linked 14
intellectual disability, X-linked 19
intellectual disability, X-linked 2
intellectual disability, X-linked 20
intellectual disability, X-linked 21
intellectual disability, X-linked 23
intellectual disability, X-linked 30
intellectual disability, X-linked 41
intellectual disability, X-linked 42
intellectual disability, X-linked 45
intellectual disability, X-linked 46
intellectual disability, X-linked 49
intellectual disability, X-linked 50
intellectual disability, X-linked 53
intellectual disability, X-linked 58
intellectual disability, X-linked 61
intellectual disability, X-linked 63
intellectual disability, X-linked 72
intellectual disability, X-linked 73
intellectual disability, X-linked 77
intellectual disability, X-linked 81
intellectual disability, X-linked 82
intellectual disability, X-linked 84
intellectual disability, X-linked 88
intellectual disability, X-linked 89
intellectual disability, X-linked 9
intellectual disability, X-linked 90
intellectual disability, X-linked 91
intellectual disability, X-linked 92
intellectual disability, X-linked 93
intellectual disability, X-linked 95
intellectual disability, X-linked 96
intellectual disability, X-linked 97
intellectual disability, X-linked 99
intellectual disability, X-linked 99, syndromic, female-restricted
intellectual disability, X-linked syndromic, Turner type
intellectual disability, X-linked, syndromic 33
intellectual disability, X-linked, syndromic, 35
intellectual disability, X-linked, syndromic, Bain type
intellectual disability, X-linked, syndromic, Houge type
intellectual disability, X-linked, with or without seizures, ARX-related
intellectual disability, X-linked, with panhypopituitarism
KBG syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Kleefstra syndrome due to 9q34 microdeletion
Koolen-de Vries syndrome
Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
Koolen-de Vries syndrome due to a point mutation
MED12-related intellectual disability syndrome
MEHMO syndrome
methylmalonic acidemia with homocystinuria, type cblX
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
microphthalmia, syndromic 1
Mowat-Wilson syndrome
Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Myhre syndrome
NAA10-related syndrome
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
non-syndromic intellectual disability
non-syndromic X-linked intellectual disability
Ogden syndrome
Paganini-Miozzo syndrome
Partington syndrome
Pierpont syndrome
pontocerebellar hypoplasia type 1
pontocerebellar hypoplasia type 1A
pontocerebellar hypoplasia type 1B
pontocerebellar hypoplasia, type 1C
PPP2R1A-related intellectual disability
Prieto syndrome
Rafiq syndrome
Renpenning syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
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
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
severe intellectual disability-progressive spastic diplegia syndrome
severe X-linked intellectual disability, Gustavson type
short stature-brachydactyly-obesity-global developmental delay syndrome
SIN3A-related intellectual disability syndrome
SIN3A-related intellectual disability syndrome due to a point mutation
skeletal dysplasia-intellectual disability syndrome
Smith-Magenis syndrome
SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
syndromic intellectual disability
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability 14
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability 94
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Chudley-Schwartz type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Hedera type
syndromic X-linked intellectual disability Lubs type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Nascimento type
syndromic X-linked intellectual disability Raymond type
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
Ververi-Brady syndrome 1
Wilson-Turner syndrome
X-linked dominant intellectual disability-epilepsy syndrome
X-linked intellectual disability
X-linked intellectual disability with hypopituitarism
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with or without nystagmus
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
X-linked intellectual disability-craniofacioskeletal syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-epilepsy syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked intellectual disability-precocious puberty-obesity syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability-spastic quadriparesis syndrome
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Golabi-Ito-hall type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Schutz type
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability, Stoll type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability, van Esch type
X-linked parkinsonism-spasticity syndrome
X-linked syndromic intellectual disability

MONDO:0001071 Orphanet 319658 MedGen 811461

Phelan-McDermid sendromu

Otozomal dominant

Kromozom 22q13 üzerindeki SHANK3 geninin delinmesi veya varyantları sonucu ortaya çıkan, gelişimsel gecikme, zihinsel engellilik, konuşmanın yok veya gecikmiş olması ve otistik özelliklerle seyreden bir durumdur.

Analiz edilen genler

SHANK3

Diğer adları

22q13 deletion; 22q13.3 deletion syndrome; deletion 22q13.3 syndrome; monosomy 22q13; monosomy type 22q13; Phelan McDermid syndrome; PHMDS

2 ilgili alt tip içerir ↓

Phelan-McDermid syndrome due to 22q13.3 deletion
Phelan-McDermid syndrome due to SHANK3 mutation

MONDO:0011652 OMIM 606232 Orphanet 48652 MedGen 339994

Pitt-Hopkins sendromu

Otozomal dominant

TCF4 genindeki varyantlar sonucu ortaya çıkan, zihinsel engellilik, solunum düzensizlikleri ve belirgin yüz özellikleriyle seyreden bir durumdur.

Analiz edilen genler

TCF4

Diğer adları

intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea; mental retardation, Syndromal, with intermittent hyperventilation; Pitt Hopkins syndrome; PTHS

MONDO:0012589 OMIM 610954 Orphanet 2896 MedGen 370910

Wolf-Hirschhorn sendromu

Otozomal dominant

Kromozom 4p'nin ucunun delinmesi sonucu ortaya çıkan, büyüme geriliği, zihinsel engellilik, nöbetler ve belirgin yüz özellikleriyle seyreden bir durumdur.

Analiz edilen genler

NSD2

Diğer adları

4p deletion syndrome; 4p syndrome; 4p- syndrome; chromosome 4p syndrome; chromosome 4p16.3 deletion syndrome; distal deletion 4p; distal monosomy 4p; microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation; Pitt syndrome; Pitt-Rogers-Danks syndrome; telomeric deletion 4p; WHS; Wittwer syndrome; Wolf syndrome; Wolf-Hirschhorn syndrome, Isolated cases

MONDO:0008684 OMIM 194190 Orphanet 280 MedGen 408255

Kleefstra sendromu

EHMT1 (veya KMT2C) genini etkileyen varyantlar veya delinmeler sonucu ortaya çıkan, zihinsel engellilik, düşük kas tonusu ve otistik özelliklerle seyreden bir durumdur.

Analiz edilen genler

Diğer adları

9Q- syndrome; 9q-syndrome; 9q34 deletion syndrome; 9q34.3 microdeletion syndrome; chromosome 9q deletion syndrome; chromosome 9Q34.3 deletion syndrome

4 ilgili alt tip içerir ↓

Kleefstra syndrome 1
Kleefstra syndrome 2
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation

MONDO:0012455 Orphanet 261494 MedGen 1684615

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Zihinsel Yetersizlik

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zihinsel yetersizlik

Phelan-McDermid sendromu

Pitt-Hopkins sendromu

Wolf-Hirschhorn sendromu

Kleefstra sendromu

Diğer psikiyatrik conditions

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