Delayed speech and language development, and Muscular hypotonia of the trunk

Diseases related with Delayed speech and language development and Muscular hypotonia of the trunk

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


Top matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21 Is also known as ;coxpd21

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay
  • Myopathy


SOURCES: EFO OMIM ORPHANET MONDO UMLS

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO GARD OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: UMLS MONDO DOID OMIM

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

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Other less relevant matches:

Medium match HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM UMLS MONDO

More info about HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Related symptoms:

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


SOURCES: UMLS MONDO DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

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 PARKINSONISM-DYSTONIA, INFANTILE; PKDYS

Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by Kurian et al., 2011).For an overlapping phenotype, see tyrosine hydroxylase deficiency (OMIM ), also known as autosomal recessive Segawa syndrome.

PARKINSONISM-DYSTONIA, INFANTILE; PKDYS Is also known as dopamine transporter deficiency syndrome;dtds;ipd; pkdys

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: GARD MONDO UMLS SCTID OMIM NCIT ORPHANET MESH

More info about PARKINSONISM-DYSTONIA, INFANTILE; PKDYS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Related symptoms:

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


SOURCES: OMIM MONDO GARD UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Motor delay


SOURCES: UMLS ORPHANET OMIM MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Muscular hypotonia of the trunk

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Absent speech Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertonia Intellectual disability Seizures Athetosis Choreoathetosis Hyperreflexia Spasticity Myopathy Motor delay Congenital onset

Rare Symptoms - Less than 30% cases


Encephalopathy Epileptic encephalopathy Severe muscular hypotonia Limb dystonia Abnormality of eye movement Microcephaly Hypomimic face Feeding difficulties Bradykinesia Parkinsonism Inability to walk Dyskinesia Abnormal pyramidal sign Ataxia Limb hypertonia Hypoplasia of the corpus callosum Increased serum lactate Progressive Cryptorchidism Constipation Respiratory insufficiency due to muscle weakness Abnormality of movement Irritability Rigidity Gastroesophageal reflux Increased variability in muscle fiber diameter Tremor Chorea Involuntary movements Infantile onset Cognitive impairment Strabismus Myopathic facies Focal clonic seizures Open mouth Cerebral palsy Cyanosis Oculogyric crisis Status epilepticus Ventricular septal defect Hypodontia Neonatal hypotonia Fever Abnormality of carboxylic acid metabolism Orofacial dyskinesia Delayed gross motor development Abnormal cardiac septum morphology Long face Morphological abnormality of the pyramidal tract Decreased fetal movement Hypokinesia Multifocal seizures Decreased nerve conduction velocity Focal seizures Hyporeflexia Spastic diplegia Abnormality of extrapyramidal motor function Severe global developmental delay Dementia Intellectual disability, severe Progressive spasticity Self-injurious behavior Impulsivity Poor head control Nystagmus Stereotypy Lower limb spasticity Aggressive behavior Behavioral abnormality Pica Short stature Hepatic steatosis Restlessness Intellectual disability, mild Dysphagia Arrhythmia Skeletal muscle atrophy Muscle weakness Growth delay Absence seizures Hypsarrhythmia Gait ataxia Cerebral atrophy Febrile seizures Obesity Generalized myoclonic seizures Polymicrogyria Autistic behavior Autism Cerebral cortical atrophy Hyperphenylalaninemia Broad-based gait Attention deficit hyperactivity disorder Dilation of lateral ventricles



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