Intellectual disability, severe, and Developmental regression

Diseases related with Intellectual disability, severe and Developmental regression

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Developmental regression that can help you solving undiagnosed cases.

Top matches:

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about PITT-HOPKINS-LIKE SYNDROME

MRD5 is characterized by moderate to severe intellectual disability with delayed psychomotor development apparent in the first years of life. Most patients develop variable types of seizures, some have autism or autism spectrum disorder (see {209850}), and some have acquired microcephaly (summary by Berryer et al., 2013).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Other less relevant matches:

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

High match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

High match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Developmental regression

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Developmental regression. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Epileptic encephalopathy Generalized hypotonia EEG abnormality Autism Ataxia Microcephaly Cerebral atrophy Dystonia Autistic behavior Scoliosis Hypsarrhythmia Strabismus Severe global developmental delay Focal-onset seizure Abnormal pyramidal sign Focal impaired awareness seizure Hemiplegia/hemiparesis Absent speech Muscular hypotonia Status epilepticus Atonic seizures Myoclonus

Rare Symptoms - Less than 30% cases

Cerebral visual impairment Dyskinesia Hepatomegaly Tetraplegia Generalized myoclonic seizures Generalized tonic-clonic seizures Fever Respiratory insufficiency Behavioral abnormality Hypoplasia of the corpus callosum Intellectual disability, profound Visual impairment Chorea Tremor Peripheral neuropathy Cerebral cortical atrophy Muscle weakness Absence seizures Short stature Failure to thrive Feeding difficulties Unsteady gait Stereotypy Self-injurious behavior Hyperventilation Delayed speech and language development Nystagmus Motor delay Bruxism Broad thumb Hypoplasia of dental enamel Hypohidrosis Coarse hair Abnormality of metabolism/homeostasis Ventriculomegaly Hydrocephalus Cerebellar hypoplasia Dementia Amelogenesis imperfecta Microphthalmia Upslanted palpebral fissure Mental deterioration Ptosis Abnormality of dental color Smooth philtrum Renal insufficiency Yellow-brown discoloration of the teeth Sensorineural hearing impairment Cataract Splenomegaly Cardiomyopathy Cerebellar vermis hypoplasia Progressive neurologic deterioration Skeletal muscle atrophy Abnormality of dental enamel Short metacarpal Pes cavus Apraxia Arrhythmia Clinodactyly of the 5th finger Macrotia Joint stiffness Arthrogryposis multiplex congenita Abnormality of movement Arnold-Chiari malformation Abnormality of the dentition Abnormality of the metacarpal bones Decreased muscle mass Dysphasia Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Depressivity Miosis Skeletal dysplasia Ichthyosis Abnormality of the eye Retinopathy Nyctalopia Abnormality of eye movement Abnormality of the foot Dry skin Central hypotonia Heart block Nail dysplasia Progressive visual loss Abnormality of epiphysis morphology Abnormality of retinal pigmentation Anosmia Abnormality of vision Hammertoe Caudate atrophy Infantile encephalopathy Ankle clonus Optic atrophy Atrial septal defect Cryptorchidism Abnormality of brainstem morphology Telangiectasia of the skin Generalized amyotrophy Aplasia/Hypoplasia of the cerebellum Lymphedema Telangiectasia Abnormality of extrapyramidal motor function Sensory neuropathy Vertigo Paresthesia Hypertrophic cardiomyopathy Hyperkeratosis Hearing impairment Intellectual disability, moderate Broad-based gait Growth delay Abnormal facial shape Constipation Gastroesophageal reflux Wide mouth Pulmonic stenosis Drooling Atypical absence seizures Protruding tongue Rigidity Postnatal microcephaly Torticollis Language impairment Impulsivity Pes planus Polymicrogyria Spastic tetraparesis Cutaneous photosensitivity Tetraparesis High myopia Bradykinesia Short foot Small hand Poor speech Muscular hypotonia of the trunk Kyphosis Cerebellar atrophy Dysphagia Myopia Pain Intermittent hyperventilation Hemiclonic seizures Psychosis Choanal atresia Generalized tonic seizures Generalized tonic-clonic seizures with focal onset Spastic paraplegia Neurodegeneration Spastic tetraplegia CNS hypomyelination Epileptic spasms Cerebral hypomyelination Febrile seizures Impaired horizontal smooth pursuit EEG with burst suppression Cognitive impairment Hyperreflexia Hyperactivity Aggressive behavior Thin fingernail


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