Genes associated with “absent speech”
How are genes scored? (0–100 composite)
Strong Candidates
11 genesneurodevelopmental disorder with severe motor impairment and absent language
Consider
92 genesneurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodegeneration with brain iron accumulation 5
neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
intellectual disability, autosomal dominant 38
FOXG1 disorder
developmental and epileptic encephalopathy, 69
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY; CCDDRD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY; NEDFLPH
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES; NEDFSAB
NEURODEVELOPMENTAL DISORDER WITH GROWTH IMPAIRMENT, QUADRIPARESIS, AND POOR OR ABSENT SPEECH; NEDGQS
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES; NEDGSAF
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, EPILEPSY, AND ABSENT SPEECH; NEDHES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA; NEDMISH
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY; NEDMLHB
NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES; NEDSFB
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES; NEDSMB
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI
intellectual disability, autosomal dominant 22
AT-rich interaction domain 1B
glutamate ionotropic receptor NMDA type subunit 2B
mediator complex subunit 12
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
ATRX chromatin remodeler
intellectual disability, X-linked syndromic, Turner type
epilepsy, early-onset, 3, with or without developmental delay
developmental and epileptic encephalopathy, 85, with or without midline brain defects
mucolipidosis type IV
developmental and epileptic encephalopathy, 37
Joubert syndrome 20
pogo transposable element derived with ZNF domain
neurodevelopmental disorder with speech impairment and with or without seizures
developmental and epileptic encephalopathy, 31A
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
neurodevelopmental disorder with seizures and brain abnormalities
multiple mitochondrial dysfunctions syndrome 4
developmental and epileptic encephalopathy, 17
intellectual disability, autosomal recessive 57
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
intellectual disability, X-linked, syndromic, Houge type
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
intellectual disability, autosomal dominant 52
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
oculocerebrofacial syndrome, Kaufman type
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
intellectual disability, autosomal recessive 42
hyperphosphatasia with intellectual disability syndrome 1
AT-rich interaction domain 1A
catenin beta 1
T-box brain transcription factor 1
developmental and epileptic encephalopathy 106
potassium voltage-gated channel subfamily Q member 2
synaptic Ras GTPase activating protein 1
intellectual disability, autosomal dominant 29
glutamate pyruvate transaminase 2 deficiency
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Possible
313 genes — click to expand
RAB3 GTPase activating protein catalytic subunit 1
transmembrane protein 67
developmental and epileptic encephalopathy, 39
intellectual developmental disorder, autosomal dominant 67
Arts syndrome
Skraban-Deardorff syndrome
ferro-cerebro-cutaneous syndrome
intellectual disability, autosomal dominant 9
COG4-congenital disorder of glycosylation
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
developmental and epileptic encephalopathy, 76
developmental and epileptic encephalopathy, 59
intellectual disability, autosomal dominant 40
developmental and epileptic encephalopathy, 83
developmental and epileptic encephalopathy, 30
developmental and epileptic encephalopathy 91
neurodevelopmental disorder with or without seizures and gait abnormalities
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
developmental and epileptic encephalopathy, 47
hypomagnesemia, seizures, and intellectual disability 1
Huppke-Brendel syndrome
zinc finger MYND-type containing 11
Sotos syndrome
combined oxidative phosphorylation deficiency 32
Hiatt-Neu-Cooper neurodevelopmental syndrome
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Jaberi-Elahi syndrome
multiple mitochondrial dysfunctions syndrome 6
neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
intellectual disability, X-linked, syndromic, Bain type
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
glutaryl-CoA dehydrogenase deficiency
Au-Kline syndrome
intellectual disability, autosomal dominant 53
TELO2-related intellectual disability-neurodevelopmental disorder
Coffin-Siris syndrome 8
developmental and epileptic encephalopathy, 46
developmental delay with or without dysmorphic facies and autism
microcephaly 7, primary, autosomal recessive
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
developmental and epileptic encephalopathy 93
X-linked intellectual disability-cerebellar hypoplasia syndrome
developmental and epileptic encephalopathy, 32
pontocerebellar hypoplasia type 6
Lopes-Maciel-Rodan syndrome
3-methylglutaconic aciduria type 9
developmental and epileptic encephalopathy, 62
orofaciodigital syndrome type 14
developmental and epileptic encephalopathy, 63
PEHO-like syndrome
Schaaf-Yang syndrome
microcephaly 15, primary, autosomal recessive
cortical dysplasia-focal epilepsy syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
developmental and epileptic encephalopathy 102
neurodegeneration, childhood-onset, with cerebellar atrophy
cortical dysplasia, complex, with other brain malformations 9
neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
intellectual disability, autosomal dominant 16
Wieacker-Wolff syndrome, female-restricted
developmental and epileptic encephalopathy, 18
intellectual disability, autosomal recessive 64
cerebellar atrophy with seizures and variable developmental delay
Wilson-Turner syndrome
intellectual disability, autosomal recessive 58
developmental and epileptic encephalopathy, 55
leukoencephalopathy, progressive, infantile-onset, with or without deafness
intellectual developmental disorder, autosomal recessive 67
Khan-Khan-Katsanis syndrome
ALG11-congenital disorder of glycosylation
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
pontocerebellar hypoplasia, type 16
developmental and epileptic encephalopathy, 25
syndromic X-linked intellectual disability Nascimento type
LIF receptor subunit alpha
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
developmental and epileptic encephalopathy 103
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
homocystinuria-megaloblastic anemia cblD type
X-linked intellectual disability, Cantagrel type
intellectual disability, autosomal recessive 5
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
cerebroretinal microangiopathy with calcifications and cysts 3
spastic tetraplegia and axial hypotonia, progressive
isolated sulfite oxidase deficiency
intellectual disability, X-linked 104
autosomal recessive spinocerebellar ataxia 13
encephalopathy due to defective mitochondrial and peroxisomal fission 2
pontocerebellar hypoplasia, type 14
combined oxidative phosphorylation defect type 13
developmental and epileptic encephalopathy, 58
optic atrophy 11
complex cortical dysplasia with other brain malformations 5
developmental and epileptic encephalopathy 105 with hypopituitarism
neurodevelopmental disorder with impaired language and ataxia and with or without seizures
BICD cargo adaptor 2
developmental and epileptic encephalopathy, 23
cerebellar, ocular, craniofacial, and genital syndrome
developmental and epileptic encephalopathy 98
lissencephaly 8
Ritscher-Schinzel syndrome 4
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Radio-Tartaglia syndrome
turnpenny-fry syndrome
spastic paraplegia 86, autosomal recessive
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
encephalopathy, progressive, with amyotrophy and optic atrophy
neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.