Scoliosis, and Intellectual disability, mild

Diseases related with Scoliosis and Intellectual disability, mild

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

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Other less relevant matches:

High match MENTAL RETARDATION, X-LINKED 49; MRX49


Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15|mrx15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

High match AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME


SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

High match AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY


AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY Is also known as autosomal recessive spastic ataxia with leukoencephalopathy|spax3|autosomal recessive spastic ataxia type 3|arsal

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY

High match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

High match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY


Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY Is also known as autosomal recessive cerebellar ataxia due to gba2 deficiency

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Spasticity
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY

High match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Top 5 symptoms//phenotypes associated to Scoliosis and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Intellectual disability, moderate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Scoliosis and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Intellectual disability, severe Microcephaly Short stature Seizures Motor delay

Rare Symptoms - Less than 30% cases


Nystagmus Dysphagia Sensorineural hearing impairment Cleft upper lip Cerebral cortical atrophy Poor speech Autism Autistic behavior Hearing impairment Ataxia Cleft palate Abnormal pyramidal sign Hyperreflexia Dysarthria Cerebral atrophy Gait ataxia Oral cleft Spastic dysarthria Cataract Babinski sign Cleft lip Peripheral neuropathy Progressive cerebellar ataxia Long face Small for gestational age Prominent forehead Kyphoscoliosis Long foot Abnormality of the skeletal system Broad nasal tip Delayed speech and language development Nasal speech Hypertelorism Coarse facial features Kyphosis Sloping forehead Polydactyly Decreased testicular size Low posterior hairline Prominent supraorbital ridges Synophrys Preaxial polydactyly Pes planus Abnormality of the musculature Upslanted palpebral fissure Atrial septal defect Preaxial hand polydactyly Cryptorchidism Progressive cataract Truncal titubation Cerebral white matter atrophy Cerebral hypomyelination Loss of ability to walk Lower limb amyotrophy Motor polyneuropathy Titubation Onion bulb formation Axonal loss Large hands Thoracic kyphosis Slender finger Abnormal saccadic eye movements Achalasia Bulbar signs Hypoplastic scapulae Mild global developmental delay Generalized dystonia Macroglossia Neurodegeneration Micromelia Mental deterioration High forehead Immunodeficiency Blindness Vitamin A deficiency Vitamin E deficiency Impaired proprioception Decreased motor nerve conduction velocity Head tremor Impaired vibration sensation in the lower limbs Brisk reflexes Truncal ataxia Sensorimotor neuropathy Lower limb spasticity Urinary incontinence Distal amyotrophy Peripheral axonal neuropathy Pes cavus Abnormal facial shape Long toe Bilateral cleft lip and palate Bilateral cleft lip Axonal degeneration Polyneuropathy CNS hypomyelination Encephalopathy Hip dysplasia Arthrogryposis multiplex congenita Hip dislocation Camptodactyly of finger Prominent nasal bridge Narrow chest Flexion contracture Muscular hypotonia Generalized tonic-clonic seizures with focal onset Focal impaired awareness seizure Epileptic encephalopathy Focal-onset seizure Arachnodactyly Absent speech Microretrognathia Hypoplasia of the maxilla Behavioral abnormality Narrow face Strabismus Growth abnormality Chorioretinal degeneration Amblyopia Decreased body weight Memory impairment Attention deficit hyperactivity disorder Hyperactivity Delayed skeletal maturation Abnormality of the sternum Absence seizures Hammertoe Leukodystrophy Urinary urgency Intention tremor Abnormal cerebellum morphology Slender build Lower limb muscle weakness Congenital cataract Developmental regression Muscular hypotonia of the trunk Tremor Feeding difficulties Muscle weakness Mild hearing impairment Spastic ataxia Thick lower lip vermilion Leukoencephalopathy Knee dislocation Horizontal nystagmus Bilateral sensorineural hearing impairment Dental crowding Dysmetria Cerebellar hypoplasia High palate Cerebellar atrophy Macrocephaly Frontal bossing Cognitive impairment Pectus excavatum Mandibular prognathia Pectus carinatum Atypical absence seizures Externally rotated hips



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