Delayed speech and language development, and Paresthesia

Diseases related with Delayed speech and language development and Paresthesia

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


Top matches:

Medium match ABETAL34V AMYLOIDOSIS

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abeta amyloidosis, piedmont type; abetal34v-related amyloidosis; hchwa, piedmont type; hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Coma
  • Behavioral abnormality
  • Dementia


SOURCES: ORPHANET

More info about ABETAL34V AMYLOIDOSIS

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: UMLS OMIM MONDO GARD

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

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

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Other less relevant matches:

Medium match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o, charcot-marie-tooth disease, axonal, autosomal dominant, type 2o;cmt2o

Related symptoms:

  • Autosomal dominant inheritance
  • Motor delay
  • Peripheral neuropathy
  • Pain
  • Gait disturbance


SOURCES: MONDO GARD ORPHANET UMLS DOID OMIM

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

Medium match CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J

Charcot-Marie-Tooth disease type 4J is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by Nicholson et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J Is also known as charcot-marie-tooth disease, autosomal recessive, type 4j;cmt4j

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Motor delay
  • Muscle weakness
  • Nevus


SOURCES: UMLS NCIT ORPHANET MESH OMIM MONDO GARD DOID SCTID

More info about CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy;autosomal recessive spinocerebellar ataxia type 21; scar21

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Motor delay


SOURCES: ORPHANET UMLS DOID MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as fhm, mhp1

Related symptoms:

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


SOURCES: MONDO OMIM GARD NCIT UMLS

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Medium match GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2

GLUT1 deficiency syndrome-2 is an autosomal dominant disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy, with an average onset of about 2 to 3 years. Mild mental retardation may also occur. One family has been reported with the additional feature of hemolytic anemia (Weber et al., 2008). GLUT1 deficiency syndrome-2 shows wide clinical variability both within and between affected families. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT1 deficiency syndrome-1 (OMIM ) represents the more severe end of the phenotypic spectrum. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement in motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009).

GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 Is also known as paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia, ped with or without epilepsy and/or hemolytic anemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia, dystonia 18;dyt18;dyt18; dystonia 18; ped

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM GARD DOID UMLS SCTID MONDO

More info about GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2

Medium match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia;hmsn ia, hmsn1a, charcot-marie-tooth neuropathy, type 1a, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a;cmt1a; microduplication 17p12

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Pica
  • Hearing impairment
  • Motor delay


SOURCES: UMLS NCIT SCTID ORPHANET DOID OMIM GARD MONDO

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26 Is also known as ;coxpd26

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET UMLS OMIM EFO MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hyporeflexia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Autosomal dominant inheritance Muscle weakness Pain Motor delay Autosomal recessive inheritance Frequent falls Gait ataxia Migraine Tremor Sensory impairment Ataxia Milia Nystagmus Seizures Decreased motor nerve conduction velocity Coma Hemiplegia Pica Areflexia Heterogeneous Generalized hypotonia Hearing impairment Spasticity Fever Hyperreflexia Gait disturbance Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Progressive Transient unilateral blurring of vision Sensory neuropathy Paralysis Onion bulb formation Slow progression Limb muscle weakness Nevus Falls Polyneuropathy Sensorimotor neuropathy Decreased nerve conduction velocity Migraine with aura Axonal loss Skeletal muscle atrophy Cerebellar atrophy Foot dorsiflexor weakness Delayed myelination Hyperactive deep tendon reflexes Migraine without aura Pes cavus Dysmetria Intellectual disability, moderate Hemiparesis Stroke Confusion Behavioral abnormality Headache Dysphasia Abnormal cerebellum morphology Edema Dysarthria Drowsiness Episodic ataxia Intention tremor Gastrointestinal dysmotility Distal amyotrophy Abnormality of the foot Apnea Kyphoscoliosis Exertional dyspnea Juvenile onset Hypoglycorrhachia Lymphoma Peripheral demyelination Split hand Progressive muscle weakness Hammertoe Mitochondrial myopathy Steppage gait Upper limb dysmetria Growth delay Jerky head movements Slurred speech Limb ataxia Lower limb spasticity Progressive microcephaly Horizontal nystagmus Absence seizures Involuntary movements Focal seizures with impairment of consciousness or awareness Impulsivity Atonic seizures Focal seizures without impairment of consciousness or awareness Reticulocytosis Hand tremor Action tremor Torsion dystonia Abnormality of the head Limb dysmetria Sleep apnea Paroxysmal dyskinesia Paroxysmal dystonia Fibroma Hodgkin lymphoma Delayed gross motor development Narrow mouth Progressive distal muscular atrophy Abnormal nervous system electrophysiology Cirrhosis Choreoathetosis Malabsorption Lactic acidosis Dyspnea Acidosis Hypertrophic nerve changes Babinski sign Cardiomyopathy Feeding difficulties Myopathy Shoulder pain Failure to thrive Spontaneous pain sensation Acute demyelinating polyneuropathy Myelin outfoldings Axonal regeneration Calf muscle hypertrophy Segmental peripheral demyelination/remyelination Glucose intolerance Decreased number of peripheral myelinated nerve fibers Neurofibromas Cold-induced muscle cramps Sensory ataxia Exercise intolerance Gait imbalance Demyelinating peripheral neuropathy Blue sclerae Ulnar claw Brain atrophy Insidious onset Increased serum lactate Poor speech Diaphragmatic weakness Decreased sensory nerve conduction velocity Hypopnea Triangular face Generalized seizures Dysmetric saccades Athetosis Difficulty running Phonophobia Personality disorder Scintillating scotoma Short stature Lower limb muscle weakness Peripheral axonal neuropathy Axonal degeneration Lower limb pain Loss of consciousness Limb pain Elevated serum creatine phosphokinase Proximal muscle weakness Unsteady gait Difficulty climbing stairs Ankle contracture Distal arthrogryposis Peripheral hypomyelination Borderline personality disorder Restlessness Optic atrophy Developmental regression Dementia Cerebral hemorrhage Abnormality of the cerebral vasculature Blindness Vomiting Depressivity Photophobia Autistic behavior Blurred vision Vertigo Apraxia Nausea Diplopia Tinnitus Scotoma Aphasia Severe hearing impairment Hepatomegaly Splenomegaly Specific learning disability EEG abnormality Nuchal rigidity Microcephaly Cognitive impairment Anemia Dystonia Cerebral atrophy Cerebral cortical atrophy Myoclonus Aggressive behavior Psychotic episodes Mental deterioration Clonus Irritability Abnormality of movement Hemolytic anemia Dyskinesia Chorea Focal seizures Panic attack Dyscalculia Talipes equinovarus Saccadic smooth pursuit Hepatosplenomegaly Abnormality of the liver Hepatic failure Progressive cerebellar ataxia Hepatic fibrosis Cerebellar vermis atrophy Acute hepatic failure Progressive gait ataxia Distal lower limb muscle weakness Auditory hallucinations Generalized limb muscle atrophy Stuttering Anxiety Retinal degeneration Psychosis Hallucinations Agitation Visual hallucinations Abnormal activity of mitochondrial respiratory chain



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