Intellectual disability, and Cerebral calcification

Diseases related with Intellectual disability and Cerebral calcification

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56


SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56

Low match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Thrombocytopenia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2

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Other less relevant matches:

Low match RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS


RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

Low match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Low match MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC


MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

Low match SPONDYLOENCHONDRODYSPLASIA


Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Low match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency|dhpr deficiency|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency|qdpr deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Low match DYSSPONDYLOENCHONDROMATOSIS


Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Delayed skeletal maturation
  • Kyphoscoliosis


SOURCES: ORPHANET MENDELIAN

More info about DYSSPONDYLOENCHONDROMATOSIS

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Top 5 symptoms//phenotypes associated to Intellectual disability and Cerebral calcification

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Tremor Abnormality of extrapyramidal motor function Abnormality of the cerebral white matter

Rare Symptoms - Less than 30% cases


Choreoathetosis Hearing impairment Sensorineural hearing impairment Metaphyseal enchondromatosis Abnormality of ulnar metaphysis Platyspondyly Spondylometaphyseal dysplasia Ataxia Abnormality of movement Encephalopathy Severe global developmental delay Leukoencephalopathy Kyphoscoliosis Short stature Dysphagia Hypertonia Poor speech Thrombocytopenia Delayed speech and language development Hyperreflexia Basal ganglia calcification Motor delay Hypoplasia of the corpus callosum Dysarthria Inability to walk Abnormal pyramidal sign Delayed eruption of teeth Lumbar hyperlordosis Skin erosion Gliosis Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Rhizomelia Mental deterioration Micromelia Leukodystrophy Gastrointestinal hemorrhage Hemiparesis Hyperlordosis Hemiplegia Kyphosis Abnormality of the dentition Congenital microcephaly Severe vision loss Loss of speech Brisk reflexes Aspiration Progressive microcephaly Progressive spastic quadriplegia Abnormality of the tibial metaphysis Large iliac wings Delayed skeletal maturation Anisospondyly Abnormality of fibula morphology Enlarged joints Pretibial blistering Lower limb asymmetry Anemia Generalized joint laxity Exostoses Vertebral segmentation defect Joint dislocation Osteoarthritis Genu valgum Scoliosis Multiple enchondromatosis Hypsarrhythmia Hyperphenylalaninemia Folate deficiency Excessive salivation Progressive encephalopathy Episodic fever Progressive neurologic deterioration Irritability Myoclonus Gait disturbance Muscular hypotonia Abnormality of radial metaphyses Osteopenia Postnatal microcephaly Abnormal myelination Intellectual disability, profound Neurological speech impairment Cirrhosis Nail dystrophy Neoplasm Growth delay Cogwheel rigidity Shuffling gait Lewy bodies Megalencephaly Resting tremor Slurred speech Bradykinesia Parkinsonism Dyskinesia Rigidity Pancytopenia Dementia Frontal bossing Macrocephaly Strabismus Abnormal globus pallidus morphology Lower limb hyperreflexia Toe walking Spastic gait Peripheral axonal neuropathy Unsteady gait Paraplegia Spastic paraplegia Babinski sign Peripheral neuropathy Nail dysplasia Bone marrow hypocellularity Spastic tetraplegia Renal potassium wasting Generalized myoclonic seizures Tetraplegia Generalized tonic-clonic seizures Muscular hypotonia of the trunk Visual impairment Generalized hypotonia Nonprogressive encephalopathy Doll-like facies Focal white matter lesions Abnormal CNS myelination Athetosis Ventriculomegaly Nystagmus Distal renal tubular acidosis Testicular atrophy Osteopetrosis Renal tubular acidosis Rickets Nephrocalcinosis Nephrolithiasis Bilateral sensorineural hearing impairment Dehydration Metabolic acidosis Stage 5 chronic kidney disease Paralysis Acidosis Vomiting Failure to thrive Reticulated skin pigmentation Abnormality of the vasculature



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