Delayed speech and language development, and Babinski sign

Diseases related with Delayed speech and language development and Babinski sign

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


Top matches:

High match SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4

SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 Is also known as ;autosomal recessive spastic ataxia type 4; spax4

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Nystagmus
  • Motor delay
  • Delayed speech and language development


SOURCES: ORPHANET UMLS DOID GARD OMIM MONDO

More info about SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH Is also known as mental retardation, x-linked, with epilepsy;mrxe;mrxsh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Motor delay


SOURCES: ORPHANET MESH DOID MONDO OMIM UMLS

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

High match SPINOCEREBELLAR ATAXIA 35; SCA35

Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).

SPINOCEREBELLAR ATAXIA 35; SCA35 Is also known as ;sca35

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Peripheral neuropathy


SOURCES: ORPHANET DOID OMIM SCTID GARD UMLS MONDO

More info about SPINOCEREBELLAR ATAXIA 35; SCA35

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.

LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL Is also known as mitochondrial aspartyl-trna synthetase deficiency;lbsl; leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia


SOURCES: MONDO UMLS MESH ORPHANET GARD SCTID OMIM

More info about LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL

High match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 Is also known as spinocerebellar ataxia with mental retardation and epilepsy;autosomal recessive spinocerebellar ataxia type 12; scar12

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: MONDO ORPHANET UMLS OMIM DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

High match SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM Is also known as ;asct1 deficiency; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO OMIM UMLS

More info about SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

High match PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia


SOURCES: DOID UMLS OMIM MESH MONDO

More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

High match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). Genetic Heterogeneity of CAMRQCAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (OMIM ), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (OMIM ), caused by mutation in the CA8 gene (OMIM ) on chromosome 8q11; and CAMRQ4 (OMIM ), caused by mutation in the ATP8A2 gene (OMIM ) on chromosome 13q12.

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 Is also known as cerebellar hypoplasia, vldlr-associated, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1, cerebellar ataxia, congenital, and mental retardation, autosomal recessive, dysequilibrium syndrome;des;camrq syndrome; cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome; non-progressive cerebellar ataxia-intellectual disability syndrome

Related symptoms:

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


SOURCES: UMLS ORPHANET MONDO OMIM SCTID

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

High match SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by Stamelou et al., 2012).See also infantile parkinsonism-dystonia syndrome (OMIM ), caused by mutation in the SLC6A3 gene (OMIM ).

SEGAWA SYNDROME, AUTOSOMAL RECESSIVE Is also known as parkinsonism, infantile, autosomal recessive, dystonia, dopa-responsive, autosomal recessive, dopa-responsive dystonia, autosomal recessive, tyrosine hydroxylase deficiency;autosomal recessive segawa syndrome; dyt5b; tyrosine hydroxylase deficiency; tyrosine hydroxylase-deficient dopa-responsive dystonia

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Pica
  • Ataxia
  • Motor delay


SOURCES: OMIM ORPHANET

More info about SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

High match HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2

Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cerebellar atrophy Gait ataxia Generalized hypotonia Nystagmus Seizures Bradykinesia Parkinsonism Cerebral atrophy Hyporeflexia Cognitive impairment Dystonia Rigidity Intellectual disability, moderate Absent speech Gait disturbance Microcephaly Progressive cerebellar ataxia Limb ataxia Mental deterioration Myoclonus Slow progression

Rare Symptoms - Less than 30% cases


Hypomimic face Dysphagia Pica Encephalopathy Autosomal dominant inheritance Skeletal muscle atrophy Intellectual disability, mild Peripheral neuropathy Abnormality of the cerebral white matter Abnormal pyramidal sign Flexion contracture Inability to walk Unsteady gait Dysmetria Intention tremor Muscular hypotonia of the trunk Falls Progressive Irritability Slurred speech Scoliosis Gaze-evoked nystagmus Infantile onset Neuronal loss in central nervous system Hypoplasia of the corpus callosum Optic atrophy Truncal ataxia Clonus Parkinsonism with favorable response to dopaminergic medication Frequent falls Postural instability Generalized myoclonic seizures Hypokinesia Congenital onset Drooling Resting tremor Broad-based gait Dysdiadochokinesis Cerebral palsy Cataract Abnormality of vision Pachygyria Poor speech Arachnodactyly Abnormality of movement Abnormality of the eye Muscular hypotonia Pes planus Cerebellar hypoplasia Abnormality of metabolism/homeostasis Hypoplasia of the brainstem Central hypoventilation Insidious onset Short stature Strabismus Intellectual disability, severe Postural tremor Toe walking Night sweats Limb dystonia Generalized dystonia Progressive encephalopathy Excessive salivation Focal dystonia Oculogyric crisis Decreased CSF homovanillic acid Lower limb hyperreflexia Developmental regression Abnormality of the liver Postnatal microcephaly Ankle clonus Polycythemia Limb joint contracture Central hypotonia Opisthotonus Cortical gyral simplification Hypertonia Nonprogressive Scissor gait Ptosis Feeding difficulties Fever Talipes equinovarus Respiratory distress Brisk reflexes Pes cavus Constipation Hyperhidrosis Lethargy Abnormality of extrapyramidal motor function Lewy bodies Mask-like facies Shuffling gait Arrhythmia Delusions Epileptic spasms Pseudobulbar paralysis Dysmetric saccades Hand tremor Neck muscle weakness Incoordination Torticollis Ophthalmoplegia Adult onset Difficulty walking Astereognosia Agraphesthesia Action tremor Infantile spasms Muscle weakness Atonic seizures Generalized tonic-clonic seizures Apraxia X-linked recessive inheritance Upper limb hypertonia Movement abnormality of the tongue Lower limb hypertonia Spastic ataxia Progressive gait ataxia Emotional lability Paraparesis Spastic paraparesis Neurodegeneration Abnormality of the orbital region Peripheral axonal neuropathy Hypoventilation Stereotypy Orthostatic hypotension Urinary urgency Hallucinations Hypotension Urinary incontinence Dyskinesia Sleep disturbance Gliosis Anxiety Dementia Depressivity Decreased light- and dark-adapted electroretinogram amplitude Progressive microcephaly Clumsiness Hypsarrhythmia Spastic tetraplegia Hip dysplasia Febrile seizures Delayed myelination Hyperactivity Urinary bladder sphincter dysfunction Generalized seizures Retinal degeneration Growth delay Sensory ataxia Episodic ataxia Leukoencephalopathy Oromandibular dystonia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Ichthyosis, related diseases and genetic alterations Hyperreflexia and Short palm, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more