Abnormality of the skeletal system, and Neurological speech impairment

Diseases related with Abnormality of the skeletal system and Neurological speech impairment

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Neurological speech impairment that can help you solving undiagnosed cases.


Top matches:

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5 Is also known as herpes simplex encephalitis, susceptibility to, 3

Related symptoms:

  • Seizures
  • Fever
  • Diarrhea
  • Aphasia


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5

Low match PYRIDOXINE-DEPENDENT EPILEPSY


Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Mendelian

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

Learn more

Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52; MRT52


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Intellectual disability, severe
  • Poor speech


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52; MRT52

Low match MENTAL RETARDATION, X-LINKED 105; MRX105


Related symptoms:

  • Intellectual disability
  • Behavioral abnormality
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 105; MRX105

Low match MENTAL RETARDATION, X-LINKED 100; MRX100


Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Poor speech
  • Generalized-onset seizure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 100; MRX100

Low match BIFID UVULA


Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft

Related symptoms:

  • Cleft lip
  • Bifid uvula
  • Submucous cleft soft palate
  • Nasal, dysarthic speech


SOURCES: OMIM ORPHANET MENDELIAN

More info about BIFID UVULA

Low match DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1


Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007). Genetic Heterogeneity of Susceptibility to DyslexiaAdditional dyslexia susceptibility loci include DYX2 (OMIM ) on chromosome 6p22, DYX3 (OMIM ) on chromosome 2p16-p15, DYX5 (OMIM ) on chromosome 3p12-q13, DYX6 (OMIM ) on chromosome 18p11.2, DYX8 (OMIM ) on chromosome 1p36-p34, and DYX9 (OMIM ) on chromosome Xq27.3.See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7.

DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 Is also known as word-blindness, congenital|reading disability, specific, 1

Related symptoms:

  • Hypertension
  • Neurological speech impairment
  • Dyslexia


SOURCES: OMIM MENDELIAN

More info about DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; GPIBD16


GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; GPIBD16 Is also known as mental retardation, autosomal recessive 62|mrt62

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Severe global developmental delay
  • Generalized tonic-clonic seizures


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; GPIBD16

Low match CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Poor speech
  • Chorea
  • Involuntary movements


SOURCES: OMIM MENDELIAN

More info about CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Neurological speech impairment

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Poor speech Uncommon - Between 30% and 50% cases
Diarrhea Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Neurological speech impairment. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Dyslexia Cleft lip Bifid uvula Submucous cleft soft palate Nasal, dysarthic speech Hypertension Severe global developmental delay Abnormal facial shape Generalized tonic-clonic seizures Delayed ability to walk Arachnoid cyst Chorea Involuntary movements Dyscalculia Generalized-onset seizure Absent speech Aphasia Behavioral abnormality Cognitive impairment Intellectual disability, severe Status epilepticus Abnormality of movement EEG abnormality Cerebral cortical atrophy Abnormality of metabolism/homeostasis Ventriculomegaly Hepatomegaly Muscular hypotonia Strabismus Hypertonia Fever Abnormal head movements



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Glioma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more