Intellectual disability, severe, and Kyphosis

Diseases related with Intellectual disability, severe and Kyphosis

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


Top matches:

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 KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

High match JOUBERT SYNDROME 18; JBTS18


Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

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Other less relevant matches:

High match LOPES-MACIEL-RODAN SYNDROME; LOMARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

High match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

High match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

High match RETT SYNDROME, CONGENITAL VARIANT


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

High match X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE


X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

High match CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Small hand Short stature Bruxism Short foot Generalized hypotonia Kyphoscoliosis Absent speech Prominent forehead Focal-onset seizure Inability to walk Talipes equinovarus Hypoplasia of the corpus callosum Gastroesophageal reflux Cerebellar atrophy Developmental regression

Rare Symptoms - Less than 30% cases


Cerebral atrophy Dystonia Deeply set eye Dysphagia Tremor Spasticity Pain Short palm Hirsutism Cerebellar hypoplasia Hyporeflexia Abnormal pyramidal sign Severe global developmental delay Ataxia Hypertelorism Chorea Cognitive impairment Muscular hypotonia Tetraparesis Spastic tetraparesis Abnormal facial shape Intellectual disability, profound Depressed nasal bridge Intellectual disability, mild Poor eye contact Strabismus Heterotopia Intellectual disability, progressive Encephalopathy Constipation EEG abnormality Flexion contracture Motor delay Coarse facial features Delayed myelination Thick lower lip vermilion High palate Apraxia Thick vermilion border Pachygyria Cortical dysplasia Postnatal microcephaly Growth delay Progressive microcephaly Thoracic kyphosis Compensated hypothyroidism Thoracolumbar kyphoscoliosis Drooling Autism Pes planus Aspiration Neonatal hypotonia Postnatal growth retardation Irritability Breathing dysregulation Tongue thrusting Genu valgum Dyskinesia Athetosis Inappropriate laughter Impaired social interactions Cortical gyral simplification Loss of consciousness Epicanthus Respiratory failure Short toe Plagiocephaly Hypoplasia of the brainstem Toe walking Broad palm Anteverted nares Blindness Myoclonus Infantile spasms Generalized-onset seizure Broad forehead Tapered finger Sleep disturbance Generalized myoclonic seizures Epileptic encephalopathy Sloping forehead Hypsarrhythmia Stereotypy Spastic tetraplegia Waddling gait Multifocal seizures Central adrenal insufficiency Hyperactivity Hip dislocation Peripheral neuropathy Infantile encephalopathy Cerebral visual impairment Downslanted palpebral fissures Gait disturbance Ventriculomegaly Brachycephaly Tetraplegia Mood swings Developmental stagnation Wide mouth Abnormality of the foot Peripheral axonal neuropathy Polymicrogyria Downturned corners of mouth Everted lower lip vermilion Hyperventilation Ulnar deviation of the hand or of fingers of the hand Lissencephaly Ulnar deviation of the hand Intrauterine growth retardation Bulbous nose Iris coloboma Elbow flexion contracture Knee flexion contracture Hemangioma Capillary hemangioma Micrognathia Ventricular septal defect Wide nasal bridge Polydactyly Joint laxity Camptodactyly Abnormality of the eye Abnormality of eye movement Horseshoe kidney Molar tooth sign on MRI Coloboma Cataract Myopia Arachnodactyly Macrocephaly Frontal bossing Pectus excavatum Mandibular prognathia Pectus carinatum Prominent nasal bridge Narrow chest Long face Slender build Hypoplasia of the maxilla Narrow face Growth abnormality Nasal speech Abnormality of the sternum Abnormality of the musculature Long foot Feeding difficulties Muscular hypotonia of the trunk Adrenocorticotropic hormone deficiency Delayed puberty Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Skeletal muscle atrophy Alopecia Hypogonadism Hypothyroidism Carious teeth Hypodontia Thoracic scoliosis Hyperpigmentation of the skin Gynecomastia Melanocytic nevus Adrenal insufficiency Reduced subcutaneous adipose tissue Motor deterioration Upper motor neuron dysfunction Abnormality of the neck Global brain atrophy Poor speech Hearing impairment Unsteady gait Bradykinesia High myopia Focal impaired awareness seizure Ankle clonus Central hypotonia Caudate atrophy Sensorineural hearing impairment Dysdiadochokinesis Delayed speech and language development Dysarthria Micropenis Gait ataxia Dysmetria Brain atrophy Intention tremor Truncal ataxia EEG with generalized slow activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Generalized tonic-clonic seizures, related diseases and genetic alterations

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