Intellectual disability, severe, and Pes planus

Diseases related with Intellectual disability, severe and Pes planus

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

Top 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

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

Other less relevant matches:

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

High match MGAT2-CDG

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

MGAT2-CDG Is also known as cdg2a|cdgiia|cdg syndrome type iia|congenital disorder of glycosylation type iia|carbohydrate deficient glycoprotein syndrome type iia|n-acetylglucosaminyltransferase 2 deficiency|cdg-iia|alkuraya syndrome|carbohydrate-deficient glycoprotein syndrome, typ

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MGAT2-CDG

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Pes planus

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Absent speech

Common Symptoms - More than 50% cases

Neonatal hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Muscular hypotonia Short stature Hypoplasia of the corpus callosum Hyperreflexia Coarse facial features Abnormal facial shape Nystagmus Babinski sign Talipes equinovarus Wide mouth Intellectual disability, moderate Autism Flexion contracture Strabismus Drooling Skeletal muscle atrophy Atrial septal defect Hypertonia High palate Dysarthria Ventriculomegaly Long face Macrotia Open mouth Spastic paraplegia Paraplegia Spastic tetraplegia Pectus excavatum Narrow forehead Ataxia Feeding difficulties Scoliosis Motor delay Narrow face Downslanted palpebral fissures Gastroesophageal reflux Macrocephaly Tetraplegia

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Convex nasal ridge Ventricular septal defect Hearing impairment Prominent antihelix Shyness Bilateral sensorineural hearing impairment Protruding tongue Severe global developmental delay Intellectual disability, progressive Long philtrum Abnormality of the periventricular white matter Gait ataxia Stereotypy Frontal bossing Cerebral cortical atrophy Genu recurvatum Facial hypotonia Ptosis Acetabular dysplasia Everted upper lip vermilion Cataract Abnormality of movement Cognitive impairment Gait disturbance Cerebellar atrophy Poor speech Dilatation Inability to walk Waddling gait Pachygyria Visual impairment Relative macrocephaly Encephalopathy EEG abnormality Developmental regression Autistic behavior Macroorchidism Dyskinesia Chorea Growth delay Irritability Postnatal growth retardation Facial asymmetry Aggressive behavior Short philtrum Bulbous nose Protruding ear Athetosis Delayed speech and language development Cortical gyral simplification Poor eye contact Wide nasal bridge Type I diabetes mellitus Severe temper tantrums Congenital macroorchidism Finger joint hypermobility Folate-dependent fragile site at Xq28 Increased size of the mandible Enuresis Muscle stiffness Bilateral single transverse palmar creases Large forehead CNS hypomyelination Poor head control Hyperextensibility of the finger joints Myopathic facies Broad palm Hallux valgus Biparietal narrowing Aphasia Polyphagia Bowel incontinence Generalized amyotrophy Clonus Mood swings Ascending tubular aorta aneurysm Camptodactyly of finger Encopresis Oppositional defiant disorder Hyporeflexia Periventricular gray matter heterotopia Upslanted palpebral fissure Proptosis Hypothyroidism Abnormality of the nervous system Feeding difficulties in infancy Abnormality of the pinna Joint stiffness Abnormality of the foot Leukodystrophy Generalized muscle weakness Urinary incontinence Muscle weakness Cerebral calcification Abnormal head movements Macroorchidism, postpubertal Interphalangeal joint contracture of finger Choreoathetosis Involuntary movements Irregular dentition Malar flattening Increased serum lactate Coloboma Hyperactive deep tendon reflexes Aplasia/Hypoplasia of the corpus callosum Highly arched eyebrow Microcornea Prominent nose Esotropia Renal agenesis Progressive visual loss Intellectual disability, profound Thick lower lip vermilion Dental crowding Short toe Short chin Aortic regurgitation Abnormal palate morphology Genu varum Joint hyperflexibility Aortic aneurysm Chorioretinal coloboma Unilateral renal agenesis Bowing of the legs Congenital nystagmus Neurogenic bladder Hypoplasia of teeth Profound global developmental delay Colpocephaly Short upper lip Lens luxation Lop ear Scleral staphyloma Short 2nd toe Iris coloboma Dolichocephaly Central hypotonia Brachydactyly Hypoplasia of the zygomatic bone Abnormality of the neck Delayed CNS myelination Hypoplasia of the musculature Rotary nystagmus Increased thyroid-stimulating hormone level Abnormal conjugate eye movement Stahl ear Underfolded superior helices Hypertelorism Micrognathia Low-set ears Depressed nasal bridge Myopia Hip dislocation Optic atrophy Abnormality of the skeletal system Congestive heart failure Intellectual disability, mild Microphthalmia Patent ductus arteriosus Abnormal heart morphology Clinodactyly of the 5th finger Agenesis of corpus callosum Hydronephrosis Telecanthus Mental deterioration Large hands Corneal opacity Abnormality of neuronal migration Coxa valga Self-injurious behavior Difficulty walking Arachnodactyly Progressive cerebellar ataxia Intention tremor Broad-based gait Truncal ataxia Cerebral palsy Abnormality of vision Dysdiadochokinesis Hypoplasia of the brainstem Toe walking Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Talipes Abnormality of the eye Amblyopia Pointed chin Decreased muscle mass Long nose Progressive spastic paraplegia Overweight Generalized joint laxity Spastic dysarthria Failure to thrive Peripheral neuropathy Short neck Diarrhea Dysmetria Cerebellar hypoplasia Recurrent respiratory infections Genu valgum Cryptorchidism Behavioral abnormality Cerebral atrophy Polymicrogyria Hypsarrhythmia Status epilepticus Choanal atresia Cerebral visual impairment Focal impaired awareness seizure Generalized tonic-clonic seizures with focal onset Kyphosis Constipation Delayed myelination Abnormality of metabolism/homeostasis Apraxia Postnatal microcephaly Progressive microcephaly Aspiration Bruxism Breathing dysregulation Impaired social interactions Inappropriate laughter Tongue thrusting Febrile seizures Excessive salivation Tremor Abnormality of the dentition Posteriorly rotated ears Chronic otitis media Attention deficit hyperactivity disorder Reduced factor XI activity Reduced factor XII activity Type II transferrin isoform profile Midfrontal capillary hemangioma Midface retrusion Obesity Depressivity Hyperactivity Mandibular prognathia High forehead Anxiety Joint laxity Neurological speech impairment Abnormal isoelectric focusing of serum transferrin Joint hypermobility Thick vermilion border Postural instability Round face Otitis media Overgrowth Mitral valve prolapse Heterotopia Hyperpigmentation of the skin Sinusitis Hyperkinesis Premature ovarian insufficiency Reduced factor IX activity Reduced antithrombin III activity Brachycephaly Everted lower lip vermilion Kyphoscoliosis Osteopenia Retrognathia Thin upper lip vermilion Proteinuria Respiratory tract infection Sparse hair Prominent nasal bridge Unsteady gait Thin vermilion border Thick eyebrow Hirsutism Long eyelashes Thoracolumbar kyphoscoliosis Tall stature Gingival overgrowth Proximal placement of thumb Abnormality of the coagulation cascade Narrow nasal bridge Slender long bone Self-mutilation Low hanging columella Volvulus Abnormality of the rib cage Diastema Macrodontia Posterior staphyloma


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