Delayed speech and language development, and Unsteady gait

Diseases related with Delayed speech and language development and Unsteady gait

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 Is also known as salih ataxia;autosomal recessive spinocerebellar ataxia type 15; scar15; salih ataxia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: DOID MONDO UMLS OMIM ORPHANET

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

Medium match STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC Is also known as lenk-ploski syndrome;lenk-ploski syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Hyperreflexia
  • Dysphagia
  • Hypertonia


SOURCES: ORPHANET OMIM UMLS MONDO

More info about STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract


SOURCES: UMLS MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 Is also known as muscular dystrophy, limb-girdle, type 2p;lgmd2p, muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related;lgmd2p

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Motor delay
  • Muscle weakness


SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

Medium match SPINOCEREBELLAR ATAXIA 29; SCA29

Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012).Heterozygous mutation in the ITPR1 gene also causes SCA15 (OMIM ), which is distinguished by later age at onset and normal cognition.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 29; SCA29 Is also known as cerebellar ataxia, congenital nonprogressive, autosomal dominant;cnpca, cerebellar vermis aplasia, aplasia of cerebellar vermis;acv;congenital nonprogressive spinocerebellar ataxia; sca29

Related symptoms:

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


SOURCES: MESH OMIM GARD ORPHANET DOID SCTID MONDO UMLS

More info about SPINOCEREBELLAR ATAXIA 29; SCA29

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD; IECEE

IECEE is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD; IECEE

Medium 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

Medium 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

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Generalized hypotonia Global developmental delay Cerebellar atrophy Hyperreflexia Tremor Motor delay Limb ataxia Absent speech Dysmetria Cognitive impairment Autosomal dominant inheritance Spasticity Encephalopathy Progressive

Rare Symptoms - Less than 30% cases


Poor speech Delayed gross motor development Dysmetric saccades Babinski sign Peripheral neuropathy Truncal ataxia Hypsarrhythmia Cortical visual impairment Abnormal cerebellum morphology Flexion contracture Muscle weakness Intellectual disability, mild Intention tremor Visual impairment Hyporeflexia Progressive cerebellar ataxia Hypertelorism Incoordination Intellectual disability, moderate Epileptic encephalopathy Frequent falls Falls Developmental regression Arrhythmia Elevated serum creatine phosphokinase Slow progression Difficulty walking Osteopenia Mental deterioration Abnormal pyramidal sign Multifocal epileptiform discharges Talipes Cerebral atrophy Abnormal facial shape Postnatal microcephaly Delayed myelination Generalized seizures Adult onset Leukoencephalopathy Hip dysplasia Osteoporosis Anteverted nares Optic atrophy Wide nasal bridge Myopia Sensory ataxia Episodic ataxia Slurred speech Apraxia Clumsiness Ophthalmoplegia Abnormality of the cerebral white matter Skeletal muscle atrophy Abnormality of the orbital region Pseudobulbar paralysis Hand tremor Neck muscle weakness Narrow forehead Status epilepticus Prominent forehead Torticollis Peripheral axonal neuropathy Dysdiadochokinesis Neonatal hypotonia Loss of ability to walk Trophic changes related to pain Lumbar hyperlordosis Waddling gait Muscular dystrophy Hyperlordosis Intellectual disability, severe Spastic gait Cataract Growth delay Craniofacial dystonia Ankle contracture Excessive salivation Steppage gait Drooling Dystonia Hypertonia Dysphagia Saccadic smooth pursuit Postural instability Abnormality of eye movement Abnormality of the eye Gowers sign Limb-girdle muscle weakness Aggressive behavior Vertical nystagmus Infantile onset Microcephaly Visual fixation instability Delayed social development Truncal titubation Delayed fine motor development Diffuse cerebellar atrophy Abnormal saccadic eye movements Nonprogressive cerebellar ataxia Titubation Tonsillitis Agenesis of cerebellar vermis Cerebellar vermis atrophy Broad-based gait Focal seizures with impairment of consciousness or awareness Oculomotor apraxia Cerebral palsy Horizontal nystagmus Focal seizures Cerebellar hypoplasia Congenital onset Brisk reflexes



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Microdontia, related diseases and genetic alterations Optic atrophy and Severe short stature, related diseases and genetic alterations

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