Motor delay, and Stereotypy

Diseases related with Motor delay and Stereotypy

In the following list you will find some of the most common rare diseases related to Motor delay and Stereotypy that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Other less relevant matches:

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Top 5 symptoms//phenotypes associated to Motor delay and Stereotypy

Symptoms // Phenotype % cases
Intellectual disability 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
Aggressive behavior Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Stereotypy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Strabismus Ptosis Delayed speech and language development Hyperactivity Ataxia Spasticity Behavioral abnormality Attention deficit hyperactivity disorder Irritability Microcephaly EEG abnormality Chorea Absent speech Self-injurious behavior Delayed myelination Delayed gross motor development Language impairment Athetosis Short stature Feeding difficulties Dyskinesia Scoliosis Intellectual disability, severe Autistic behavior Impaired social interactions Muscular hypotonia Delayed ability to walk Anxiety Epicanthus Nystagmus Abnormal facial shape Hypertelorism

Rare Symptoms - Less than 30% cases

Intellectual disability, moderate Choreoathetosis Clinodactyly High palate Bruxism Postnatal microcephaly Constipation Optic atrophy Ophthalmoplegia Exotropia Clumsiness Hypertonia Abnormality of extrapyramidal motor function Joint hypermobility Hypermetropia Self-mutilation Downslanted palpebral fissures Neonatal hypotonia Hypoplasia of the corpus callosum Gastroesophageal reflux Anteverted nares Broad forehead Thick vermilion border Failure to thrive Poor speech Apraxia Open mouth Drooling Thick eyebrow Autism Speech apraxia Midface retrusion Obesity Short nose Macrocephaly Prominent forehead Encephalopathy Deeply set eye Wide mouth Developmental regression Vomiting Macrotia Flexion contracture Gout Renal insufficiency Megaloblastic anemia Dyslexia Focal dystonia Testicular atrophy Facial grimacing Intellectual disability, mild Hyperuricosuria Anemia Hyperuricemia Hematuria Opisthotonus Nephropathy Clinodactyly of the 5th finger Hyperreflexia Oral-pharyngeal dysphagia Cerebral palsy Finger clinodactyly Spastic gait Nephrolithiasis Recurrent urinary tract infections Dysphagia Rigidity Arthritis Hip dislocation Dysarthria Proximal placement of thumb Short philtrum Excessive purine production Narrow face Pes cavus Mandibular prognathia Muscular hypotonia of the trunk Feeding difficulties in infancy Joint hyperflexibility Long face Parkinsonism Aganglionic megacolon Tall stature External ophthalmoplegia Malar flattening Cachexia Redundant skin Mask-like facies Myopathic facies Chronic constipation Ileus Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Abnormality of metabolism/homeostasis Gait disturbance Bladder stones Thin vermilion border Podagra Micrognathia Cryptorchidism Long philtrum Syndactyly Upslanted palpebral fissure High forehead Blepharophimosis Recurrent hand flapping Synophrys Tapered finger Cognitive impairment Round face Broad-based gait Insulin resistance Cafe-au-lait spot Easy fatigability Polycystic ovaries Impulsivity Cavum septum pellucidum Long toe Horizontal eyebrow Pain Abnormality of brain morphology Nasogastric tube feeding Inability to walk Tremor Cardiomyopathy Myopathy Hypotelorism Elevated serum creatine phosphokinase Difficulty walking Proximal muscle weakness Peripheral axonal neuropathy Myoclonus Muscle weakness Specific learning disability Involuntary movements Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Resting tremor Centrally nucleated skeletal muscle fibers Difficulty running Insulin-resistant diabetes mellitus Peripheral neuropathy Hearing impairment Abnormal posturing Apnea Broad nasal tip Retrognathia Relative macrocephaly Large forehead Hyporeflexia Cerebellar hypoplasia Coarse facial features Abnormality of the nervous system Neurological speech impairment Progressive language deterioration Focal-onset seizure Generalized-onset seizure Hypertrichosis Reduced tendon reflexes Loss of consciousness Cortical dysplasia Hyperventilation Unilateral ptosis Flared nostrils Orofacial dyskinesia Abnormal basal ganglia MRI signal intensity Sparse eyebrow Visual impairment Dental crowding Narrow palate 2-3 toe syndactyly Vertebral fusion Butterfly vertebrae Hyperplasia of the maxilla Thoracic kyphoscoliosis Exaggerated median tongue furrow Depressed nasal bridge Mitral regurgitation Ventriculomegaly Cerebral atrophy Osteopenia Telecanthus Abnormality of the cerebral white matter Bulbous nose High, narrow palate Thick lower lip vermilion Cerebral visual impairment Abnormality of the genital system Lumbar hyperlordosis Progressive extrapyramidal movement disorder Genu valgum Progressive extrapyramidal muscular rigidity Central core regions in muscle fibers Cerebellar atrophy Growth delay Talipes equinovarus Kyphosis Pes planus Postnatal growth retardation Pachygyria Pectus carinatum Progressive microcephaly Aspiration Cortical gyral simplification Poor eye contact Breathing dysregulation Inappropriate laughter Tongue thrusting Myopia Frontal bossing Underfolded superior helices


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