Delayed speech and language development, and Hyporeflexia

Diseases related with Delayed speech and language development and Hyporeflexia

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


Top matches:

Medium match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy


SOURCES: DOID MONDO OMIM UMLS

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Medium match DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Delayed speech and language development


SOURCES: UMLS OMIM DOID MONDO

More info about DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B

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

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 Is also known as ;coxpd13

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Myopathy


SOURCES: OMIM ORPHANET MONDO UMLS

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Medium match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012).

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria;4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria; ssadh deficiency

Related symptoms:

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


SOURCES: ORPHANET MONDO MESH SCTID DOID GARD UMLS OMIM

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Medium 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

Medium 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

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 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

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Motor delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Babinski sign Dysarthria Nystagmus Intellectual disability, moderate Gait ataxia Cerebellar atrophy Hyperreflexia Muscle weakness Limb ataxia

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Slow progression Growth delay Dystonia Tremor Cognitive impairment Infantile onset Generalized myoclonic seizures Apraxia Generalized tonic-clonic seizures Clumsiness Severe muscular hypotonia Cerebral atrophy Hypoplasia of the corpus callosum Slurred speech Absent speech Spasticity Abnormality of the eye Peripheral neuropathy Progressive Optic atrophy Unsteady gait Postural instability Abnormality of eye movement Microcephaly Spastic ataxia Progressive gait ataxia Sensory ataxia Emotional lability Paraparesis Spastic paraparesis Frequent falls Neurodegeneration Agraphesthesia Movement abnormality of the tongue Retinal degeneration Progressive cerebellar ataxia Generalized seizures Falls Mental deterioration Myoclonus Gaze-evoked nystagmus Lower limb hypertonia Episodic ataxia Upper limb hypertonia Resting tremor Hypomimic face Paroxysmal dystonia Epileptic spasms Infantile spasms Flexion contracture Atonic seizures Encephalopathy Abnormality of the cerebral white matter Peripheral axonal neuropathy Action tremor Drooling Bradykinesia Parkinsonism Rigidity X-linked recessive inheritance Truncal ataxia Gait disturbance Astereognosia Scoliosis Leukoencephalopathy Aggressive behavior Cataplexy Moderate sensorineural hearing impairment Feeding difficulties Myopathy EEG with focal spikes Intellectual disability, profound Cerebellar hypoplasia Congenital onset Intrauterine growth retardation Saccadic smooth pursuit Delayed gross motor development Vestibular dysfunction Muscular hypotonia of the trunk Vertigo Sensorineural hearing impairment Hearing impairment Paralysis Sensory neuropathy Distal sensory impairment Distal muscle weakness Areflexia Pain Short stature Dysphagia Dyskinesia Disinhibition Anxiety Hyperkinesis Self-injurious behavior Oculomotor apraxia Absence seizures Hallucinations Status epilepticus Psychosis Aciduria Autistic behavior Abnormality of the nervous system EEG abnormality Athetosis Autism Hyperactivity Behavioral abnormality Abnormality of metabolism/homeostasis Tics Muscular hypotonia Strabismus Limb dystonia Decreased nerve conduction velocity Choreoathetosis Urinary bladder sphincter dysfunction


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