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Disease association ontology term - MONDO:0100500 - Mendelian neurodevelopmental disorder

Term summary

ID
MONDO:0100500
Name
Mendelian neurodevelopmental disorder
Ontology or CV name
Disease association
Definition
A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.

Parents

Annotation

Disease association

MONDO:0100255 - adenosine kinase deficiency

References:

Genes:

MONDO:0014648 - Al-Raqad syndrome

References:

Genes:

MONDO:0011790 - Amish lethal microcephaly

References:

Genes:

MONDO:0014700 - Au-Kline syndrome

References:

Genes:

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

References:

Genes:

MONDO:0019502 - autosomal recessive non-syndromic intellectual disability

References:

Genes:

MONDO:0016660 - autosomal recessive primary microcephaly

References:

Genes:

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

References:

Genes:

MONDO:0014811 - cerebellar atrophy, visual impairment, and psychomotor retardation;

References:

Genes:

MONDO:0014862 - cerebral palsy, spastic quadriplegic, 3

References:

Genes:

MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

References:

Genes:

MONDO:0010441 - CK syndrome

References:

Genes:

MONDO:0030914 - Clark-Baraitser syndrome

References:

Genes:

MONDO:0010561 - Coffin-Lowry syndrome

References:

Genes:

MONDO:0014337 - complex cortical dysplasia with other brain malformations 5

References:

Genes:

MONDO:0010333 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

References:

Genes:

MONDO:0030881 - developmental and epileptic encephalopathy 102

References:

Genes:

MONDO:0031021 - developmental and epileptic encephalopathy 104

References:

Genes:

MONDO:0031028 - developmental and epileptic encephalopathy 105 with hypopituitarism

References:

Genes:

MONDO:0031055 - developmental and epileptic encephalopathy 107

References:

Genes:

MONDO:0859325 - developmental and epileptic encephalopathy 109

References:

Genes:

MONDO:0957780 - developmental and epileptic encephalopathy 111

References:

Genes:

MONDO:0958330 - developmental and epileptic encephalopathy 113

References:

Genes:

MONDO:0968946 - developmental and epileptic encephalopathy 115

References:

Genes:

MONDO:0970945 - developmental and epileptic encephalopathy 116

References:

Genes:

MONDO:0020630 - developmental and epileptic encephalopathy 91

References:

Genes:

MONDO:0020632 - developmental and epileptic encephalopathy 93

References:

Genes:

MONDO:0014150 - developmental and epileptic encephalopathy 94

References:

Genes:

MONDO:0023659 - developmental and epileptic encephalopathy 96

References:

Genes:

MONDO:0013389 - developmental and epileptic encephalopathy, 12

References:

Genes:

MONDO:0014199 - developmental and epileptic encephalopathy, 17

References:

Genes:

MONDO:0014392 - developmental and epileptic encephalopathy, 25

References:

Genes:

MONDO:0014593 - developmental and epileptic encephalopathy, 29

References:

Genes:

MONDO:0012245 - developmental and epileptic encephalopathy, 3

References:

Genes:

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

References:

Genes:

MONDO:0957248 - developmental and epileptic encephalopathy, 31B

References:

Genes:

MONDO:0014625 - developmental and epileptic encephalopathy, 33

References:

Genes:

MONDO:0014719 - developmental and epileptic encephalopathy, 35

References:

Genes:

MONDO:0010472 - developmental and epileptic encephalopathy, 36

References:

Genes:

MONDO:0014868 - developmental and epileptic encephalopathy, 38

References:

Genes:

MONDO:0012812 - developmental and epileptic encephalopathy, 4

References:

Genes:

MONDO:0014895 - developmental and epileptic encephalopathy, 40

References:

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

References:

Genes:

MONDO:0015000 - developmental and epileptic encephalopathy, 48

References:

Genes:

MONDO:0014647 - developmental and epileptic encephalopathy, 50

References:

Genes:

MONDO:0015025 - developmental and epileptic encephalopathy, 51

References:

Genes:

MONDO:0033362 - developmental and epileptic encephalopathy, 53

References:

Genes:

MONDO:0033364 - developmental and epileptic encephalopathy, 55

References:

Genes:

MONDO:0033365 - developmental and epileptic encephalopathy, 56

References:

Genes:

MONDO:0029138 - developmental and epileptic encephalopathy, 67

References:

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

Genes:

MONDO:0032752 - developmental and epileptic encephalopathy, 75

References:

Genes:

MONDO:0032768 - developmental and epileptic encephalopathy, 76

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0032822 - developmental and epileptic encephalopathy, 80

References:

Genes:

MONDO:0032858 - developmental and epileptic encephalopathy, 81

References:

Genes:

MONDO:0032880 - developmental and epileptic encephalopathy, 82

References:

Genes:

MONDO:0032895 - developmental and epileptic encephalopathy, 83

References:

Genes:

MONDO:0026771 - developmental and epileptic encephalopathy, 85, with or without midline brain defects

References:

Genes:

MONDO:0030059 - developmental and epileptic encephalopathy, 87

References:

Genes:

MONDO:0044326 - developmental delay and seizures with or without movement abnormalities

References:

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

References:

Genes:

MONDO:0970951 - El Hayek-Chahrour neurodevelopmental disorder

References:

Genes:

MONDO:0060562 - encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

References:

Genes:

MONDO:0010590 - FG syndrome 1

References:

Genes:

MONDO:0010659 - FRAXE intellectual disability

References:

Genes:

MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

References:

Genes:

MONDO:0958071 - Hao-Fountain syndrome due to USP7 mutation

References:

Genes:

MONDO:0014602 - Houge-Janssens syndrome 1

References:

Genes:

MONDO:0032697 - Houge-Janssens syndrome 3

References:

Genes:

MONDO:0032823 - intellectual developmental disorder 60 with seizures

References:

Genes:

MONDO:0032485 - intellectual developmental disorder 61

References:

Genes:

MONDO:0015022 - intellectual developmental disorder with dysmorphic facies and ptosis

References:

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

Genes:

MONDO:0976124 - intellectual developmental disorder with polymicrogyria and seizures

References:

Genes:

MONDO:0023657 - intellectual developmental disorder, autosomal dominant 65

References:

Genes:

MONDO:0030891 - intellectual developmental disorder, autosomal dominant 66

References:

Genes:

MONDO:0029465 - intellectual developmental disorder, autosomal dominant 69

References:

Genes:

MONDO:0859333 - intellectual developmental disorder, autosomal dominant 70

References:

Genes:

MONDO:0957397 - intellectual developmental disorder, autosomal dominant 72

References:

Genes:

MONDO:0957536 - intellectual developmental disorder, autosomal dominant 73

References:

Genes:

MONDO:0958203 - intellectual developmental disorder, autosomal dominant 74

References:

Genes:

MONDO:0032662 - intellectual developmental disorder, autosomal recessive 67

References:

Genes:

MONDO:0032665 - intellectual developmental disorder, autosomal recessive 68

References:

Genes:

MONDO:0032789 - intellectual developmental disorder, autosomal recessive 71

References:

Genes:

MONDO:0030533 - intellectual developmental disorder, autosomal recessive 73

References:

Genes:

MONDO:0957288 - intellectual developmental disorder, autosomal recessive 79

References:

Genes:

MONDO:0958204 - intellectual developmental disorder, autosomal recessive 81

References:

Genes:

MONDO:0026723 - intellectual developmental disorder, X-linked 108

References:

Genes:

MONDO:0958200 - intellectual developmental disorder, X-linked 113

References:

Genes:

MONDO:0975828 - intellectual developmental disorder, X-linked 114

References:

Genes:

MONDO:0013805 - intellectual disability, autosomal dominant 13

References:

Genes:

MONDO:0014580 - intellectual disability, autosomal dominant 33

References:

Genes:

MONDO:0014617 - intellectual disability, autosomal dominant 38

References:

Genes:

MONDO:0014842 - intellectual disability, autosomal dominant 41

References:

Genes:

MONDO:0014855 - intellectual disability, autosomal dominant 42

References:

Genes:

MONDO:0030912 - intellectual disability, autosomal dominant 47

References:

Genes:

MONDO:0030916 - intellectual disability, autosomal dominant 50

References:

Genes:

MONDO:0030917 - intellectual disability, autosomal dominant 51

References:

Genes:

MONDO:0030921 - intellectual disability, autosomal dominant 55, with seizures

References:

Genes:

MONDO:0030922 - intellectual disability, autosomal dominant 56

References:

Genes:

MONDO:0020847 - intellectual disability, autosomal dominant 58

References:

Genes:

MONDO:0013656 - intellectual disability, autosomal dominant 9

References:

Genes:

MONDO:0013173 - intellectual disability, autosomal recessive 13

References:

Genes:

MONDO:0013528 - intellectual disability, autosomal recessive 14

References:

Genes:

MONDO:0014348 - intellectual disability, autosomal recessive 42

References:

Genes:

MONDO:0014409 - intellectual disability, autosomal recessive 44

References:

Genes:

MONDO:0012613 - intellectual disability, autosomal recessive 5

References:

Genes:

MONDO:0014649 - intellectual disability, autosomal recessive 50

References:

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

References:

Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

References:

Genes:

MONDO:0014930 - intellectual disability, autosomal recessive 56

References:

Genes:

MONDO:0014996 - intellectual disability, autosomal recessive 58

References:

Genes:

MONDO:0015020 - intellectual disability, autosomal recessive 59

References:

Genes:

MONDO:0044313 - intellectual disability, autosomal recessive 60

References:

Genes:

MONDO:0020850 - intellectual disability, autosomal recessive 65

References:

Genes:

MONDO:0012615 - intellectual disability, autosomal recessive 7

References:

Genes:

MONDO:0010497 - intellectual disability, X-linked 102

References:

Genes:

MONDO:0049222 - intellectual disability, X-linked 107

References:

Genes:

MONDO:0010447 - intellectual disability, X-linked 19

References:

Genes:

MONDO:0010361 - intellectual disability, X-linked 30

References:

Genes:

MONDO:0010451 - intellectual disability, X-linked 41

References:

Genes:

MONDO:0010250 - intellectual disability, X-linked 49

References:

Genes:

MONDO:0010313 - intellectual disability, X-linked 63

References:

Genes:

MONDO:0010660 - intellectual disability, X-linked 9

References:

Genes:

MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type

References:

Genes:

MONDO:0010500 - intellectual disability, X-linked, syndromic 33

References:

Genes:

MONDO:0030908 - intellectual disability, X-linked, syndromic, 35

References:

Genes:

MONDO:0030909 - intellectual disability, X-linked, syndromic, Houge type

References:

Genes:

MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

References:

Genes:

MONDO:0975795 - Kariminejad neurodevelopmental syndrome

References:

Genes:

MONDO:0016532 - Lennox-Gastaut syndrome

References:

Genes:

MONDO:0010258 - MEHMO syndrome

References:

Genes:

MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II

References:

Genes:

MONDO:0054593 - microcephaly 18, primary, autosomal dominant

References:

Genes:

MONDO:0054716 - microcephaly 19, primary, autosomal recessive

References:

Genes:

MONDO:0054761 - microcephaly 20, primary, autosomal recessive

References:

Genes:

MONDO:0054804 - microcephaly 21, primary, autosomal recessive

References:

Genes:

MONDO:0054806 - microcephaly 23, primary, autosomal recessive

References:

Genes:

MONDO:0032583 - microcephaly 24, primary, autosomal recessive

References:

Genes:

MONDO:0030339 - microcephaly 28, primary, autosomal recessive

References:

Genes:

MONDO:0031060 - microcephaly 29, primary, autosomal recessive

References:

Genes:

MONDO:0011488 - microcephaly 3, primary, autosomal recessive

References:

Genes:

MONDO:0859342 - microcephaly 30, primary, autosomal recessive

References:

Genes:

MONDO:0011437 - microcephaly 4, primary, autosomal recessive

References:

Genes:

MONDO:0009624 - microcephaly and chorioretinopathy 1

References:

Genes:

MONDO:0014592 - microcephaly and chorioretinopathy 3

References:

Genes:

MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

References:

Genes:

MONDO:0013254 - microcephaly, seizures, and developmental delay

References:

Genes:

MONDO:0010671 - microphthalmia, syndromic 1

References:

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

Genes:

MONDO:0030046 - neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity

References:

Genes:

MONDO:0968947 - neurodevelopmental disorder plus optic atrophy

References:

Genes:

MONDO:0033642 - neurodevelopmental disorder with alopecia and brain abnormalities

References:

Genes:

MONDO:0060624 - neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

References:

Genes:

MONDO:0032888 - neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies

References:

Genes:

MONDO:0030866 - neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

References:

Genes:

MONDO:0032790 - neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

References:

Genes:

MONDO:0859141 - neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

References:

Genes:

MONDO:0060596 - neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

References:

Genes:

MONDO:0859361 - neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia

References:

Genes:

MONDO:0859179 - neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

References:

Genes:

MONDO:0031011 - neurodevelopmental disorder with dysmorphic facies and variable seizures

References:

Genes:

MONDO:0030852 - neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

References:

Genes:

MONDO:0859258 - neurodevelopmental disorder with dystonia and seizures

References:

Genes:

MONDO:0859265 - neurodevelopmental disorder with epilepsy and brain atrophy

References:

Genes:

MONDO:0060761 - neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum

References:

Genes:

MONDO:0032894 - neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

References:

Genes:

MONDO:0958240 - neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities

References:

Genes:

MONDO:0859187 - neurodevelopmental disorder with hypotonia and brain abnormalities

References:

Genes:

MONDO:0030037 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

References:

Genes:

MONDO:0958278 - neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

References:

Genes:

MONDO:0859185 - neurodevelopmental disorder with hypotonia and dysmorphic facies

References:

Genes:

MONDO:0957541 - neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

References:

Genes:

MONDO:0032829 - neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

References:

Genes:

MONDO:0859347 - neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

References:

Genes:

MONDO:0971043 - neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities

References:

Genes:

MONDO:0030025 - neurodevelopmental disorder with hypotonia, microcephaly, and seizures

References:

Genes:

MONDO:0976131 - neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

References:

Genes:

MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

References:

Genes:

MONDO:0957588 - neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

References:

Genes:

MONDO:0859162 - neurodevelopmental disorder with infantile epileptic spasms

References:

Genes:

MONDO:0060491 - neurodevelopmental disorder with involuntary movements

References:

Genes:

MONDO:0968945 - neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

References:

Genes:

MONDO:0957531 - neurodevelopmental disorder with microcephaly and movement abnormalities

References:

Genes:

MONDO:0957218 - neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

References:

Genes:

MONDO:0032779 - neurodevelopmental disorder with microcephaly and structural brain anomalies

References:

Genes:

MONDO:0060577 - neurodevelopmental disorder with microcephaly, ataxia, and seizures

References:

Genes:

MONDO:0859293 - neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment

References:

Genes:

MONDO:0060640 - neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

References:

Genes:

MONDO:0032705 - neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

References:

Genes:

MONDO:0060490 - neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

References:

Genes:

MONDO:0859250 - neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

References:

Genes:

MONDO:0100348 - neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

References:

Genes:

MONDO:0030837 - neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

References:

Genes:

MONDO:0859282 - neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures

References:

Genes:

MONDO:0033662 - neurodevelopmental disorder with microcephaly, seizures, and brain atrophy

References:

Genes:

MONDO:0060621 - neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

References:

Genes:

MONDO:0859285 - neurodevelopmental disorder with microcephaly, short stature, and speech delay

References:

Genes:

MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

References:

Genes:

MONDO:0030994 - neurodevelopmental disorder with or without autism or seizures

References:

Genes:

MONDO:0859377 - neurodevelopmental disorder with poor growth and behavioral abnormalities

References:

Genes:

MONDO:0976265 - neurodevelopmental disorder with poor growth, seizures, and brain abnormalities

References:

Genes:

MONDO:0060502 - neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

References:

Genes:

MONDO:0033658 - neurodevelopmental disorder with seizures and brain atrophy

References:

Genes:

MONDO:0032775 - neurodevelopmental disorder with seizures and speech and walking impairment

References:

Genes:

MONDO:0859266 - neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

References:

Genes:

MONDO:0859295 - neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

References:

Genes:

MONDO:0060704 - neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

References:

Genes:

MONDO:0032849 - neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

References:

Genes:

MONDO:0859137 - neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia

References:

Genes:

MONDO:0859275 - neurodevelopmental disorder with spasticity, seizures, and brain abnormalities

References:

Genes:

MONDO:0859272 - neurodevelopmental disorder with speech delay and variable ocular anomalies

References:

Genes:

MONDO:0033630 - neurodevelopmental disorder with speech impairment and dysmorphic facies

References:

Genes:

MONDO:0976125 - neurodevelopmental disorder with speech or visual impairment and brain hypomyelination

References:

Genes:

MONDO:0976263 - neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language

References:

Genes:

MONDO:0975877 - neurodevelopmental disorder with variable familial hypercholanemia

References:

Genes:

MONDO:0032807 - neurodevelopmental disorder with visual defects and brain anomalies

References:

Genes:

MONDO:0060578 - neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

References:

Genes:

MONDO:0019181 - non-syndromic X-linked intellectual disability

References:

Genes:

MONDO:0010457 - Ogden syndrome

References:

Genes:

MONDO:0014893 - Okur-Chung neurodevelopmental syndrome

References:

Genes:

MONDO:0859249 - parenti-mignot neurodevelopmental syndrome

References:

Genes:

MONDO:0011213 - Pierpont syndrome

References:

Genes:

MONDO:0032889 - Poirier-Bienvenu neurodevelopmental syndrome

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0013624 - Rafiq syndrome

References:

Genes:

MONDO:0032566 - squalene synthase deficiency

References:

Genes:

MONDO:0054591 - Stankiewicz-Isidor syndrome

References:

Genes:

MONDO:0010398 - syndromic X-linked intellectual disability 14

References:

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

References:

Genes:

MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

References:

Genes:

MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

References:

Genes:

MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

References:

Genes:

MONDO:0010665 - Wilson-Turner syndrome

References:

Genes:

MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

References:

Genes:

MONDO:0010306 - X-linked intellectual disability, Cabezas type

References:

Genes:

MONDO:0015601 - X-linked intellectual disability, van Esch type

References:

Genes:

MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

References:

Genes: