Parent Terms |
Term With Siblings |
Child Terms |
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Abetalipoproteinemia Neuropathy
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
adult-onset ataxia and polyneuropathy
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alcohol Withdrawal Seizures
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alpha thalassemia-X-linked intellectual disability syndrome
amelogenesis imperfecta type 1E
Amish Lethal Microcephaly
Aphalangia Syndactyly Microcephaly
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis, Impaired Intellectual Development, and Seizures
Asparagine Synthetase Deficiency
Ataxia with Fasciculations
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Ataxia, Deafness, and Cardiomyopathy
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Ataxia-Microcephaly-Cataract Syndrome
Athabaskan brainstem dysgenesis syndrome
Atonic-Astatic Syndrome of Foerster
Autosomal Dominant Intellectual Developmental Disorder 60
autosomal dominant microcephaly +
autosomal recessive spinocerebellar ataxia 12
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Basilicata-Akhtar syndrome
Beaulieu-Boycott-Innes Syndrome
Beta-Amino Acids, Renal Transport of
Bhaskar Jagannathan Syndrome
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Cardiofacioneurodevelopmental Syndrome
Carnitine Acetyltransferase Deficiency
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Christianson syndrome A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome Xp11.23-p11.22 duplication syndrome
cleft palate, cardiac defects, and intellectual disabillity
coenzyme Q10 deficiency disease +
congenital disorder of glycosylation type IIm
congenital fibrosis of the extraocular muscles +
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 5
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
craniofrontonasal syndrome
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Deafness Hyperuricemia Neurologic Ataxia
deafness, dystonia, and cerebral hypomyelination
deafness-intellectual disability, Martin-Probst type syndrome
developmental and epileptic encephalopathy 2
developmental and epileptic encephalopathy 36
developmental and epileptic encephalopathy 85
developmental and epileptic encephalopathy 9
developmental delay and seizures with or without movement abnormalities
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Diffuse Lewy Body Disease with Gaze Palsy
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Drug Resistant Epilepsy +
Duane retraction syndrome +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
electroclinical syndrome +
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epilepsy, Occipital Calcifications
Erythropoietic Protoporphyria, X-Linked Dominant
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
familial isolated deficiency of vitamin E
female-restricted syndromic X-linked intellectual disability 99
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Focal Cortical Dysplasia of Taylor +
Forsythe-Wakeling Syndrome
Galloway-Mowat syndrome +
glaucomatous atrophy of optic disc
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi Syndrome
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Holoprosencephaly 13, X-linked
Hoyeraal Hreidarsson Syndrome
Hyperglycinemia, Lactic Acidosis, and Seizures
Hyperphosphatemia, Polyuria, and Seizures
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypomyelinating leukodystrophy 7
Hypospadias-Mental Retardation Syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Hypotonia, Seizures, and Precocious Puberty
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with autistic features and language delay, with or without seizures
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
Kaufman oculocerebrofacial syndrome
Kohlschutter-Tonz syndrome
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
Leukoencephalopathy with Ataxia
Levator-Medial Rectus Synkinesis
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
Lisch epithelial corneal dystrophy
MacDermot Winter Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, X-Linked, Syndromic, Ube2a-Related
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Nonsyndromal
Microcephaly Pontocerebellar Hypoplasia Dyskinesia
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Chorioretinopathy, Autosomal Dominant
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly with Simplified Gyral Pattern
Microcephaly with Spastic Quadriplegia
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microphthalmia and Mental Deficiency
Miles-Carpenter syndrome +
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Mullegama-Klein-Martinez syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Nabais Sa-de Vries Syndrome, Type 1
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
neurodegeneration with brain iron accumulation 5
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with eye movement abnormalities and ataxia
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
neurodevelopmental disorder with hypotonia and speech delay
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with language delay and seizures
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
Nijmegen Breakage Syndrome-Like Disorder
non-syndromic X-linked intellectual disability 1
non-syndromic X-linked intellectual disability 107
non-syndromic X-linked intellectual disability 19
non-syndromic X-linked intellectual disability 2
non-syndromic X-linked intellectual disability 41
non-syndromic X-linked intellectual disability 63
non-syndromic X-linked intellectual disability 89
non-syndromic X-linked intellectual disability 91
non-syndromic X-linked intellectual disability 98
nonphotosensitive trichothiodystrophy 5
Oculopalatocerebral Syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Opsoclonus-Myoclonus Syndrome +
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
orofaciodigital syndrome I
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Partington Anderson Syndrome
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polyhydramnios, megalencephaly, and symptomatic epilepsy
Posterior Column Ataxia with Retinitis Pigmentosa
primary ovarian insufficiency 2A
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
progressive myoclonus epilepsy 1B
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyridoxamine 5'-phosphate oxidase deficiency
pyridoxine-dependent epilepsy +
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Wilson Cavanagh Syndrome
reducing body myopathy 1A
Retinal Degeneration and Epilepsy
Sammartino De Crecchio Syndrome
Sandhaus Ben-Ami Syndrome
Say-Barber-Miller Syndrome
Schimke X-Linked Mental Retardation Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Sensory Ataxia, Autosomal Dominant
Setting-Sun Phenomenon, Familial Benign
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Silengo Lerone Pelizza Syndrome
Spastic Paraplegia, Ataxia, and Mental Retardation
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
Spinocerebellar Ataxia with Epilepsy
Spinocerebellar Ataxias +
spondyloepimetaphyseal dysplasia, Genevieve-type
Stocco Dos Santos type X-linked intellectual disability
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 13
syndromic microphthalmia 2
syndromic microphthalmia 8
syndromic X-linked intellectual developmental disorder 37
syndromic X-linked intellectual developmental disorder Bain type
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability 14
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 33
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 35
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 Cabezas 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 Pilorge 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
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disability type 10
syndromic X-linked intellectual disorder Lujan-Fryns-type
syndromic X-linked mental retardation Hough type
Tapetoretinal Degeneration with Ataxia
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
third cranial nerve disease +
Tonne-Kalscheuer syndrome
Total Anonychia with Microcephaly
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tryptophanuria with Dwarfism
Van Esch-O'Driscoll syndrome
Warburton Anyane Yeboa Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
X-linked Aarskog syndrome
X-linked chondrodysplasia punctata 2 +
X-linked dominant hypophosphatemic rickets
X-linked endothelial corneal dystrophy
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked intellectual developmental disorder 108
X-linked intellectual developmental disorder 109
X-Linked Intellectual Developmental Disorder 110
X-Linked Intellectual Developmental Disorder 112
X-Linked Intellectual Developmental Disorder 113
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked mental retardation Gustavson type
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked mental retardation-hypotonic facies syndrome-1
Zerres Rietschel Majewski Syndrome
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Synonyms |
Exact Synonyms: |
ANGELMAN SYNDROME-LIKE
;
Angelman-Like Syndrome, X-Linked
;
MRXSCH
;
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome
;
X-linked intellectual deficit, South African type
;
X-linked intellectual disability, South African type
;
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
;
syndromic X-linked intellectual developmental disorder, Christianson type
;
syndromic X-linked mental retardation, Christianson type
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Primary IDs: |
MESH:C567484
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Alternate IDs: |
MESH:C537450
;
MIM:300243
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Xrefs: |
GARD:10572
;
NCI:C181001
;
ORDO:85278
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Definition Sources: |
https://www.ncbi.nlm.nih.gov/pubmed/18342287 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20949524 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25044251 "DO" "DO" |
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