Global developmental delay, and Optic disc pallor

Diseases related with Global developmental delay and Optic disc pallor

In the following list you will find some of the most common rare diseases related to Global developmental delay and Optic disc pallor that can help you solving undiagnosed cases.

Top matches:

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Top 5 symptoms//phenotypes associated to Global developmental delay and Optic disc pallor

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy Seizures Dysarthria Gait ataxia Microcephaly Dystonia Dysmetria Encephalopathy Cognitive impairment Gait disturbance Poor speech Developmental regression Hyperreflexia Limb ataxia Visual impairment Absent speech

Rare Symptoms - Less than 30% cases

Cerebral atrophy Anemia Postnatal microcephaly Epileptic encephalopathy Oculomotor apraxia Inability to walk Failure to thrive Leukoencephalopathy Strabismus Hypertonia Abnormality of eye movement Difficulty walking Increased serum lactate Motor delay Flexion contracture Spasticity Muscular hypotonia Cerebral visual impairment Hearing impairment Abnormality of extrapyramidal motor function Feeding difficulties Autism Multifocal epileptiform discharges Chronic constipation Arnold-Chiari type I malformation Hyperventilation Abnormal autonomic nervous system physiology Hypohidrosis Occipital encephalocele Status epilepticus Hypsarrhythmia Undetectable electroretinogram Molar tooth sign on MRI Focal-onset seizure EEG abnormality Severe global developmental delay Encephalocele Pigmentary retinopathy Delayed speech and language development Muscular hypotonia of the trunk Ventriculomegaly Growth delay Abnormality of the eye Constipation Jaundice Obesity Short stature Cortical gyral simplification Micrognathia Neurodegeneration Respiratory failure Dyspnea Acidosis Irritability Lethargy Ophthalmoplegia Lactic acidosis Tetraparesis Muscle weakness Progressive neurologic deterioration Exotropia Spastic tetraparesis External ophthalmoplegia Failure to thrive in infancy Stridor Brisk reflexes Hypoplasia of the corpus callosum Abnormality of mitochondrial metabolism Cataract Prominent nose Intrauterine growth retardation Microphthalmia Cerebellar hypoplasia Severe short stature Proptosis Retinopathy Microcornea Sloping forehead Poor head control Optic nerve hypoplasia Hypoplasia of the brainstem Hyperreflexia proximally Macular atrophy Visual loss Tetraplegia Spastic tetraplegia Hepatomegaly Paraplegia Exaggerated startle response Truncal ataxia Jerky ocular pursuit movements Babinski sign Neurological speech impairment Unsteady gait Brain atrophy Esotropia Apraxia Horizontal nystagmus Titubation Incoordination Dysdiadochokinesis Gaze-evoked nystagmus Cerebellar vermis atrophy Rotary nystagmus Functional motor deficit Myopia Limb dysmetria Morphological abnormality of the pyramidal tract Edema Tapered finger Abnormal facial shape Epicanthus Anteverted nares Upslanted palpebral fissure Reduced visual acuity Protruding ear Prominent nasal bridge Obsessive-compulsive behavior Impaired vibratory sensation Visual field defect Myoclonus Intellectual disability, moderate Abnormal pyramidal sign Abnormal cerebellum morphology Progressive cerebellar ataxia Clumsiness Cerebral palsy Fever Depressivity Hyporeflexia of lower limbs Sensorimotor neuropathy Hyporeflexia Pes cavus Hyperhidrosis Spastic paraplegia Peripheral axonal neuropathy Distal amyotrophy Sensory neuropathy Delayed gross motor development Skeletal muscle atrophy Sensory axonal neuropathy Multiple joint contractures Progressive spastic paraplegia Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Motor axonal neuropathy Distal lower limb amyotrophy Kyphosis Peripheral neuropathy Arthritis Juvenile rheumatoid arthritis Pallor Nyctalopia Abnormality of skin pigmentation Rheumatoid arthritis Retinal atrophy Anisocytosis Macular edema Poikilocytosis Pain Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Decreased serum iron Ring scotoma Photoreceptor layer loss on macular OCT Scoliosis Abnormality of the periventricular white matter


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