Delayed speech and language development, and Brain atrophy

Diseases related with Delayed speech and language development and Brain atrophy

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


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Cerebral cortical atrophy


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA

Medium 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 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay
  • Cognitive impairment


SOURCES: MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

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Other less relevant matches:

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

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47 Is also known as ;

Related symptoms:

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


SOURCES: MONDO UMLS OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: DOID MONDO UMLS OMIM

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Low 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

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: GARD UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebral atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Autosomal recessive inheritance Microcephaly Encephalopathy Epileptic encephalopathy Cerebral cortical atrophy Cognitive impairment Febrile seizures Motor delay

Rare Symptoms - Less than 30% cases


Spasticity Tremor Autosomal dominant inheritance Hypoplasia of the corpus callosum Rigidity Focal seizures Hypsarrhythmia Muscular hypotonia of the trunk Arrhythmia Congenital onset Absence seizures Growth delay Intrauterine growth retardation Hyperreflexia Hypertonia Autism Choreoathetosis Severe muscular hypotonia Hyposmia Senile plaques Parkinsonism with favorable response to dopaminergic medication Motor aphasia Substantia nigra gliosis Ataxia Dystonia Hyporeflexia Cerebellar hypoplasia Intellectual disability, profound Gait ataxia EEG with focal spikes Abnormality of movement Nystagmus Athetosis Delayed myelination Gait disturbance Cerebellar atrophy Chorea Lewy bodies Myoclonus Clonus Developmental regression EEG abnormality Shuffling gait Parkinsonism Hand tremor Pain Infantile onset Postnatal growth retardation Hyperactivity Attention deficit hyperactivity disorder Autistic behavior Polymicrogyria Generalized myoclonic seizures Inability to walk Feeding difficulties Gastroesophageal reflux Wide mouth Prominent nasal bridge Pica Dementia Frontotemporal dementia Slow progression Mental deterioration Gliosis Postural instability Neuronal loss in central nervous system Bradykinesia Neurodegeneration Apraxia Intention tremor Akinesia Aphasia Resting tremor Alzheimer disease Neurofibrillary tangles Generalized tonic seizures



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