Delayed speech and language development, and Peripheral axonal neuropathy

Diseases related with Delayed speech and language development and Peripheral axonal neuropathy

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


Top matches:

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

Related symptoms:

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


SOURCES: MONDO UMLS OMIM NCIT DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 Is also known as encephalomyopathy, mitochondrial, x-linked;mitochondrial encephalomyopathy due to coxpd6; mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay
  • Muscle weakness


SOURCES: MONDO OMIM SCTID UMLS ORPHANET

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6

Mendelian

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

Learn more

Other less relevant matches:

Medium match SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES Is also known as sesame syndrome, epilepsy, ataxia, sensorineural deafness, and tubulopathy, east syndrome;sesame syndrome; seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET SCTID UMLS GARD OMIM MONDO DOID

More info about SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3

TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: ORPHANET MONDO OMIM UMLS

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012)For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 Is also known as mitochondrial protein-associated neurodegeneration;mpan;mpan; nbia due to c19orf12 mutation; nbia4; neurodegeneration with brain iron accumulation due to c19orf12 mutation; neurodegeneration with brain iron accumulation type 4

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Ataxia


SOURCES: OMIM DOID SCTID GARD UMLS ORPHANET MONDO

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Medium match HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

HAREL-YOON SYNDROME; HAYOS Is also known as ;harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS

More info about HAREL-YOON SYNDROME; HAYOS

Medium match WIEACKER-WOLFF SYNDROME; WRWF

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013).

WIEACKER-WOLFF SYNDROME; WRWF Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, apraxia, oculomotor, with congenital contractures and muscle atrophy, miles-carpenter x-linked mental retardation syndrome;mcs, mental retardation, x-linked, syndromic 4;mrxs4, mental retardation, x-linked, with congenital contractures and low fingertip arches;foot contractures-muscle atrophy-oculomotor apraxia syndrome; wieacker-wolff syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM GARD MESH MONDO

More info about WIEACKER-WOLFF SYNDROME; WRWF

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS MONDO OMIM

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low 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

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Autosomal recessive inheritance 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 Peripheral axonal neuropathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Hyporeflexia Spasticity Intellectual disability Muscle weakness Cerebellar atrophy Respiratory insufficiency Cognitive impairment Babinski sign Tremor Skeletal muscle atrophy Hyperreflexia Nystagmus Deeply set eye Visual impairment Pes cavus Abnormal facial shape Infantile onset Distal muscle weakness Distal amyotrophy Progressive Cerebral atrophy Dysdiadochokinesis Short stature Gait disturbance Optic atrophy Microcephaly Dysarthria Gait ataxia Encephalopathy Myopathy Flexion contracture Autosomal dominant inheritance

Rare Symptoms - Less than 30% cases


High forehead Anteverted nares Ventriculomegaly Upslanted palpebral fissure Hypoplasia of the corpus callosum Congenital onset Prominent nasal bridge Intention tremor Sloping forehead Sensorineural hearing impairment Dysphagia Dystonia Abnormality of the foot Cardiomyopathy Frequent falls Strabismus Shuffling gait Scoliosis Micrognathia Cataract Long philtrum Bradykinesia Rigidity Decreased testicular size Dysmetria Feeding difficulties Long face Apraxia Abnormal pyramidal sign Hearing impairment Mandibular prognathia X-linked recessive inheritance Developmental regression Increased serum lactate Muscular hypotonia of the trunk Polyneuropathy Cortical visual impairment Inability to walk Spastic paraparesis Talipes equinovarus Severe muscular hypotonia Cerebellar vermis atrophy Sensory axonal neuropathy Slurred speech Abnormality of the cerebral white matter Areflexia Slow progression Respiratory distress Abnormality of movement Limitation of joint mobility Neurological speech impairment Limb muscle weakness Hip dislocation Arthrogryposis multiplex congenita Thyroid nodule Narrow chest Smooth philtrum Gastrointestinal stroma tumor Abnormality of eye movement Elbow flexion contracture Decreased fetal movement Drooling Exotropia Joint contracture of the hand Oculomotor apraxia Cerebral palsy Delayed myelination Pain Camptodactyly Narrow palate Neonatal respiratory distress Cortical gyral simplification Apnea Optic nerve hypoplasia Hypertrophic cardiomyopathy Pectus carinatum Congenital cataract Delayed puberty Lower limb pain Difficulty running Axonal degeneration Decreased motor nerve conduction velocity Sensory impairment Paresthesia Aciduria Esotropia Hip dysplasia Absence seizures Abnormality of mitochondrial metabolism Hyperlordosis Retrognathia Lower limb muscle weakness X-linked inheritance Long neck Kyphoscoliosis Pes planus Hyperkeratosis Clinodactyly of the 5th finger Distal sensory impairment Kyphosis Intellectual disability, mild Short neck High palate Low-set ears Ptosis Facial palsy High anterior hairline Proximal placement of thumb Insulin resistance Dilated cardiomyopathy Hypermetropia Triangular face Sensory neuropathy Falls Broad nasal tip Convex nasal ridge Renal agenesis Renal hypoplasia Hypotelorism Pigmentary retinopathy Limb undergrowth Cutaneous photosensitivity Epidermal acanthosis Lymphopenia Small for gestational age High pitched voice Truncal obesity Unilateral renal agenesis Bilateral cryptorchidism Ectopic kidney Broad-based gait Short chin Increased circulating gonadotropin level Hypergonadotropic hypogonadism Postural tremor Glioma Goiter Bone marrow hypocellularity Acanthosis nigricans Abnormal lung morphology Synophrys Misalignment of teeth Congenital contracture Cryptorchidism Thrombocytopenia Midface retrusion Inguinal hernia Intrauterine growth retardation Neoplasm Anemia Growth delay Hernia Congenital foot contractures Palmar hyperkeratosis Spinal deformities U-Shaped upper lip vermilion Broad alveolar ridges Long nose Obesity Immunodeficiency Sparse hair Diabetes mellitus Short philtrum Postnatal growth retardation Retinopathy Hypothyroidism Hypogonadism Abnormality of lipid metabolism Low hanging columella Recurrent infections Chronic lung disease Nodular goiter Severe short stature Clinodactyly Micropenis Multinodular goiter Attention deficit hyperactivity disorder Optic disc pallor Absent speech Renal salt wasting Vomiting Acidosis Proteinuria Intellectual disability, moderate Metabolic acidosis Generalized seizures CNS hypomyelination Hypokalemia Polydipsia Polyuria Glycosuria Hyperaldosteronism Hypomagnesemia Enuresis Alkalosis Hypertension Increased circulating renin level Abnormality of the mitochondrion Metabolic alkalosis Abnormality of the renal tubule Hypocalciuria Chronic axonal neuropathy Hypokalemic metabolic alkalosis Peripheral hypomyelination Renal potassium wasting Salt craving Renal sodium wasting Macrocephaly Cerebellar hypoplasia Oxycephaly Diarrhea Muscular hypotonia Bulbous nose Tetraplegia Unsteady gait Clumsiness Truncal ataxia Leukoencephalopathy Episodic ataxia Sensory ataxia Intellectual disability, severe Severe global developmental delay Athetosis Paraparesis Optic neuropathy Progressive spastic paraparesis Feeding difficulties in infancy Irritability Generalized muscle weakness Failure to thrive Fasciculations Respiratory insufficiency due to muscle weakness Involuntary movements Increased variability in muscle fiber diameter Hypokinesia Ragged-red muscle fibers Central hypotonia Tongue fasciculations Increased CSF lactate Increased connective tissue Moderate global developmental delay Abnormality of the basal ganglia Increased serum pyruvate Abnormal corpus striatum morphology Coarse facial features Highly arched eyebrow Delayed skeletal maturation Motor polyneuropathy Urinary incontinence Neurodegeneration Abnormality of extrapyramidal motor function Memory impairment Progressive visual loss Spastic gait Sensorimotor neuropathy Scapular winging Emotional lability Impulsivity Amyotrophic lateral sclerosis Bowel incontinence Hyperactive deep tendon reflexes Progressive spasticity Generalized dystonia Abnormal cerebellum morphology Hand tremor Lewy bodies Motor axonal neuropathy Hypomimic face Abnormal lower motor neuron morphology Oromandibular dystonia Craniofacial dystonia Abnormal saccadic eye movements Abnormal globus pallidus morphology Abnormality of the substantia nigra Myopia Frontal bossing Abnormality of the skeletal system Short nose Neuronal loss in central nervous system Postural instability Poor speech Gastrostomy tube feeding in infancy Thick vermilion border Macroglossia Brain atrophy Narrow forehead Cerebellar vermis hypoplasia Gingival overgrowth Tented upper lip vermilion Global brain atrophy Abnormality of the periventricular white matter Profound global developmental delay Exaggerated cupid's bow Dysplastic corpus callosum Small basal ganglia Reduced brain N-acetyl aspartate level by MRS Extra-axial cerebrospinal fluid accumulation Parkinsonism Pica Behavioral abnormality Elevated serum creatine phosphokinase Depressivity Cerebral cortical atrophy Dementia Visual loss Hyperactivity Mental deterioration Clonus Difficulty walking Spastic paraplegia Paraplegia Gliosis Limb pain


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Macular degeneration, related diseases and genetic alterations Myopia and Insulin resistance, related diseases and genetic alterations