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2-hydroxyglutaric aciduria +
22q11.2 deletion syndrome +
3q27.3 microdeletion syndrome
7p22.1 microduplication syndrome
9q31.1q31.3 microdeletion syndrome
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
adult-onset nemaline myopathy
advanced sleep phase syndrome
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ATP1A3-associated neurological disorder +
autism spectrum disorder due to AUTS2 deficiency
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant primary microcephaly +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive spinocerebellar ataxia 20
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
behavioral variant of frontotemporal dementia +
benign familial infantile epilepsy +
benign paroxysmal tonic upgaze of childhood with ataxia
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral striopallidodentate calcinosis +
bilirubin encephalopathy +
biotin-responsive basal ganglia disease
blepharophimosis - intellectual disability syndrome, MKB type
Bosch-Boonstra-Schaaf optic atrophy syndrome
brain-lung-thyroid syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
cerebral amyloid angiopathy +
cerebral cavernous malformation +
cerebral creatine deficiency syndrome +
cerebral lipidosis with dementia +
Chiari malformation type I
Chiari malformation type II
childhood absence epilepsy
childhood apraxia of speech
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
childhood-onset nemaline myopathy +
chromosome 15q13.3 microdeletion syndrome
chromosome 2p16.3 deletion syndrome
chronic inflammatory demyelinating polyneuropathy
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
coloboma of optic nerve +
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
congenital bile acid synthesis defect 4
congenital cataracts-facial dysmorphism-neuropathy syndrome
congenital contractural arachnodactyly
congenital hydrocephalus +
congenital indifference to pain +
congenital insensitivity to pain with hyperhidrosis
congenital insensitivity to pain-hypohidrosis syndrome
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
congenital multicore myopathy with external ophthalmoplegia
congenital muscular dystrophy +
congenital myasthenic syndrome 15
congenital myopathy 7A, myosin storage, autosomal dominant
congenital or early infantile CACH syndrome
congenital stationary night blindness +
congenital trigeminal anesthesia
congenital vitreoretinal dysplasia +
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
creatine transporter deficiency
developmental and epileptic encephalopathy, 18
developmental and epileptic encephalopathy, 36
developmental and epileptic encephalopathy, 55
developmental malformations-deafness-dystonia syndrome
dilated cardiomyopathy 3B
Duane retraction syndrome +
DYRK1A-related intellectual disability syndrome +
dyskinesia with orofacial involvement, autosomal dominant
early myoclonic encephalopathy +
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
encephalopathy, acute, infection-induced +
epilepsy with myoclonic absences
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
epileptic encephalopathy, infantile or early childhood +
extrapyramidal and movement disease +
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
familial congenital mirror movements + Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.
familial congenital palsy of trochlear nerve
Familial cortical myoclonus
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial isolated pituitary adenoma +
familial partial epilepsy +
familial periodic paralysis +
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
folinic acid-responsive seizures
frontotemporal dementia with motor neuron disease +
generalized epilepsy with febrile seizures plus +
Gerstmann-Straussler-Scheinker syndrome
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
glycosylphosphatidylinositol biosynthesis defect 16
Griscelli syndrome type 1
hereditary cryohydrocytosis with reduced stomatin
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary retinoblastoma
Hogue-Janssens syndrome 1
holocarboxylase synthetase deficiency
holoprosencephaly-hypokinesia-congenital contractures syndrome
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
Huntington disease-like 3
Huntington disease-like syndrome due to C9ORF72 expansions
hypermanganesemia with dystonia 2
hypotonia, infantile, with psychomotor retardation and characteristic facies +
inborn aminoacylase deficiency +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
infantile-onset X-linked spinal muscular atrophy
inherited Creutzfeldt-Jakob disease
inherited neurodegenerative disorder +
inherited orthostatic hypotension +
inherited reflex epilepsy +
inherited retinal dystrophy +
inherited vitreoretinopathy +
intellectual developmental disorder and retinitis pigmentosa
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
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 speech delay, dysmorphic facies, and t-cell abnormalities
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 47
intellectual disability, autosomal recessive 53
intellectual disability, Buenos-Aires type
intellectual disability, Wolff type
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
intellectual disability-hyperkinetic movement-truncal ataxia syndrome +
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
intellectual disability-severe speech delay-mild dysmorphism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intermediate nemaline myopathy +
intracranial berry aneurysm +
isolated cerebellar hypoplasia/agenesis
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
juvenile absence epilepsy
juvenile myoclonic epilepsy
Landau-Kleffner syndrome +
lateral meningocele syndrome
Leber congenital amaurosis +
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
macrocephaly-short stature-paraplegia syndrome
macrocephaly-spastic paraplegia-dysmorphism syndrome
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +
Mendelian neurodevelopmental disorder +
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
microcephaly-complex motor and sensory axonal neuropathy syndrome
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
mismatch repair cancer syndrome 1
mitochondrial neurogastrointestinal encephalomyopathy
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple pterygium-malignant hyperthermia syndrome
multiple system atrophy +
myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MYH7-related skeletal myopathy
myoclonic-astatic epilepsy
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neurocutaneous melanocytosis
neurodegeneration with brain iron accumulation +
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome +
neurohypophyseal diabetes insipidus
neuronal intranuclear inclusion disease
neuropathy, congenital hypomelinating +
nevoid basal cell carcinoma syndrome
noise-induced hearing loss
nonsyndromic genetic hearing loss +
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculocerebrocutaneous syndrome
Opsoclonus-Myoclonus Syndrome
orofaciodigital syndrome type 6
parkinsonism with polyneuropathy
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
periodic limb movement disorder
periventricular nodular heterotopia +
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
phakomatosis pigmentokeratotica
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia +
postsynaptic congenital myasthenic syndrome +
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
prenatal-onset spinal muscular atrophy with congenital bone fractures +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive myoclonic epilepsy type 3
progressive myoclonus epilepsy +
progressive non-fluent aphasia +
progressive supranuclear palsy +
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder +
pyridoxal phosphate-responsive seizures
pyridoxine-dependent epilepsy +
qualitative or quantitative defects of alpha-sarcoglycan +
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +
qualitative or quantitative defects of beta-sarcoglycan +
qualitative or quantitative defects of delta-sarcoglycan +
qualitative or quantitative defects of desmin +
qualitative or quantitative defects of dysferlin +
qualitative or quantitative defects of gamma-sarcoglycan +
qualitative or quantitative defects of perlecan +
qualitative or quantitative defects of plectin +
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +
qualitative or quantitative defects of telethonin +
qualitative or quantitative defects of TRIM32 +
radioulnar synostosis-developmental delay-hypotonia syndrome
Rare genetic movement disorder +
red-green color blindness
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
Rubinstein-Taybi syndrome +
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Schinzel-Giedion syndrome
Schuurs-Hoeijmakers syndrome
sensorineural hearing loss-early graying-essential tremor syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +
SERAC1-related neurological disorder +
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +
severe congenital nemaline myopathy +
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
severe intellectual disability-progressive spastic diplegia syndrome
severe neonatal-onset encephalopathy with microcephaly
short stature-brachydactyly-obesity-global developmental delay syndrome
SIN3A-related intellectual disability syndrome
SLC6A3-related dopamine transporter deficiency syndrome +
SPAST-related motor disorder +
spastic paraplegia-severe developmental delay-epilepsy syndrome
spastic quadriplegic cerebral palsy +
specific language impairment +
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
subcortical band heterotopia +
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Lubs type +
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Siderius type
SYNGAP1-related developmental and epileptic encephalopathy
TH-deficient dopa-responsive dystonia
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
Unverricht-Lundborg syndrome
X-linked adrenal hypoplasia congenita
X-linked congenital stationary night blindness +
X-linked immunoneurologic disorder
X-linked intellectual disability +
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-cubitus valgus-dysmorphism 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-plagiocephaly syndrome
X-linked recessive mitochondrial myopathy
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