Delayed speech and language development, and Hypertonia

Diseases related with Delayed speech and language development and Hypertonia

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


Top matches:

Low match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

Related symptoms:

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


SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

More info about PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Low match CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003).For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 Is also known as guanidinoacetate methyltransferase deficiency, gamt deficiency, creatine deficiency syndrome due to gamt deficiency;gamt deficiency

Related symptoms:

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


SOURCES: ORPHANET MONDO GARD DOID MESH SCTID OMIM UMLS

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MONDO UMLS ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37

Low 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

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Spasticity
  • Optic atrophy
  • Absent speech
  • Leukodystrophy


SOURCES: OMIM MONDO ORPHANET UMLS DOID

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

Low 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

Low 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

Low 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

Low 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

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Hyperreflexia Muscular hypotonia of the trunk Absent speech Progressive

Rare Symptoms - Less than 30% cases


Dystonia Nystagmus Absence seizures Aggressive behavior Motor delay Congenital onset Growth delay Ataxia Microcephaly Unsteady gait Loss of ability to walk Craniofacial dystonia Frequent falls Excessive salivation Steppage gait Drooling Falls Developmental regression Elevated serum creatine phosphokinase Cataract Obesity Dysarthria Hypomimic face Febrile seizures Generalized myoclonic seizures Focal seizures Polymicrogyria Autistic behavior Autism Cerebral cortical atrophy Hyperphenylalaninemia Broad-based gait Cerebellar atrophy Bradykinesia Parkinsonism Attention deficit hyperactivity disorder Vegetative state Intellectual disability, mild Spastic gait Limb ataxia Gait ataxia Dysphagia Stereotypy Abnormality of the periventricular white matter Hemiplegia Abnormality of movement Abnormal pyramidal sign Myoclonus Intellectual disability, severe Muscular hypotonia Muscle stiffness Status epilepticus Involuntary movements Rigidity Brain atrophy Postnatal growth retardation Cerebral atrophy Infantile onset Intrauterine growth retardation Intellectual disability, profound Infantile muscular hypotonia Leukodystrophy Lower limb spasticity Optic atrophy Progressive spasticity Self-injurious behavior Impulsivity Spastic diplegia Poor head control Choreoathetosis Progressive extrapyramidal movement disorder Athetosis Behavioral abnormality Pica Short stature Bruxism Intellectual disability, moderate Hyperactivity Inability to walk


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