Delayed speech and language development, and Esotropia

Diseases related with Delayed speech and language development and Esotropia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Esotropia that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: UMLS OMIM MONDO ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36

Low match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 Is also known as ;autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; autosomal recessive spinocerebellar ataxia type 13; scar13

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO OMIM UMLS ORPHANET DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

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Other less relevant matches:

Low match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MONDO UMLS OMIM

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Low match SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: MONDO UMLS OMIM

More info about SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM DOID MONDO

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 Is also known as ;pch8; pontocerebellar hypoplasia due to chmp1a mutation

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO DOID UMLS ORPHANET SCTID OMIM

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

Low match GABA-TRANSAMINASE DEFICIENCY

GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).

GABA-TRANSAMINASE DEFICIENCY Is also known as ;gaba transaminase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay


SOURCES: DOID SCTID OMIM GARD ORPHANET MONDO MESH UMLS

More info about GABA-TRANSAMINASE DEFICIENCY

Low match LISSENCEPHALY 3; LIS3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO MESH NCIT OMIM

More info about LISSENCEPHALY 3; LIS3

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET DOID OMIM MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Esotropia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Esotropia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Absent speech Nystagmus Feeding difficulties Hyperreflexia Cerebellar hypoplasia Hypermetropia Strabismus Ventriculomegaly Visual impairment Delayed myelination Infantile onset Cortical visual impairment Hypoplasia of the corpus callosum Autosomal dominant inheritance Agenesis of corpus callosum Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases


Myoclonus Cerebral atrophy Astigmatism Prominent forehead Motor delay Abnormal facial shape Spasticity Encephalopathy Dysmetria Hypoplasia of the brainstem Micrognathia Polymicrogyria Abnormal pyramidal sign Gait ataxia Poor speech Hearing impairment Short stature Ataxia Ptosis Intellectual disability, severe Deep philtrum Severe muscular hypotonia Cerebellar vermis hypoplasia Spastic tetraplegia Focal seizures Tetraplegia Dilatation Blindness Hypertonia High-pitched cry Multifocal epileptiform discharges Posterior fossa cyst Abnormal cortical gyration Death in childhood Protruding tongue Ketonuria Spastic tetraparesis Intellectual disability, profound Leukodystrophy Tall stature Tetraparesis Lethargy Abnormality of movement Severe global developmental delay EEG abnormality Retrognathia Failure to thrive Overlapping toe Respiratory distress Dystonia Facial hypotonia Downslanted palpebral fissures Pachygyria Heterotopia CNS hypomyelination Respiratory insufficiency Epileptic encephalopathy Open mouth Unsteady gait Facial asymmetry Dolichocephaly Broad forehead Precocious puberty Apnea Anxiety Neonatal hypotonia Telecanthus High forehead Upslanted palpebral fissure Short nose Edema Hemiparesis High palate Epicanthus Hypertelorism Pica Esodeviation Congenital microcephaly Hemianopia Broad-based gait Bilateral ptosis Cerebellar dysplasia Myopathic facies Talipes valgus Cortical dysplasia Lissencephaly Abnormality of neuronal migration Hypertrichosis Abnormality of the dentition Nonprogressive Midface retrusion Posteriorly rotated ears Facial palsy Smooth philtrum High hypermetropia Facial diplegia High-frequency hearing impairment Cerebellar atrophy Esophoria Accommodative esotropia Tremor Dysarthria Reduced visual acuity Deeply set eye Anteverted nares Low-set ears Paraplegia Hypometric saccades Neurological speech impairment Pes planus Polyneuropathy Horizontal nystagmus Dysdiadochokinesis Cerebellar cyst Limb dysmetria Sensorineural hearing impairment Difficulty standing Gaze-evoked horizontal nystagmus Retrocerebellar cyst Functional motor deficit Inferior vermis hypoplasia Abnormality of ocular abduction Spastic paraplegia Hyperplasia of the maxilla Involuntary movements Pes cavus Minimal change glomerulonephritis Flexion contracture Myopia Talipes equinovarus Dysphagia Psychosis Congenital onset Glomerulosclerosis Gastroesophageal reflux Arthrogryposis multiplex congenita Abnormality of the foot Chorea Slow progression Postnatal microcephaly Focal segmental glomerulosclerosis Narrow forehead Full cheeks Growth delay Optic disc pallor Plagiocephaly Partial agenesis of the corpus callosum Limb hypertonia Dilation of lateral ventricles Scoliosis Short attention span Arachnodactyly Open bite Intrauterine growth retardation Amblyopia Proteinuria Nephrotic syndrome Dental crowding Neurodevelopmental delay



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