Global developmental delay, and Visual impairment

Diseases related with Global developmental delay and Visual impairment

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

Top matches:

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.

OCCIPITAL PACHYGYRIA AND POLYMICROGYRIA Is also known as occipital malformations of cortical development|occipital mcd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual loss
  • Reduced visual acuity
  • EEG abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCCIPITAL PACHYGYRIA AND POLYMICROGYRIA

Other less relevant matches:

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Autism


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 11; LCA11

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Top 5 symptoms//phenotypes associated to Global developmental delay and Visual impairment

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Ataxia Rare - less than 30% cases

Other less frequent symptoms

Patients with Global developmental delay and Visual impairment. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Pendular nystagmus Hypsarrhythmia Visual loss Epileptic encephalopathy Encephalopathy Photophobia Nystagmus Cognitive impairment Retinal dystrophy Hearing impairment Blindness Visual field defect Facial asymmetry Hypoplasia of the corpus callosum Developmental regression Abnormality of eye movement Midface retrusion Frontal bossing Cerebral visual impairment Myopia Plagiocephaly High myopia Rod-cone dystrophy High hypermetropia Status epilepticus Intellectual disability, profound Dystonia Hypertonia Retinal pigment epithelial mottling Congenital blindness Keratoconus Hypermetropia Polydactyly Cataract Abnormal light- and dark-adapted electroretinogram Bone spicule pigmentation of the retina Attenuation of retinal blood vessels Macular degeneration Nyctalopia Pallor Macrocephaly Coloboma Strabismus Acidosis Generalized tonic-clonic seizures EEG abnormality Increased serum lactate Lactic acidosis Feeding difficulties in infancy Hypertrophic cardiomyopathy Arrhythmia Pachygyria Congestive heart failure Cardiomyopathy Intrauterine growth retardation Feeding difficulties Decreased liver function Neonatal hypotonia Sensorineural hearing impairment Polymicrogyria Absence seizures Esotropia Hemianopia Microcornea Retinal detachment Iris coloboma Microphthalmia Focal cortical dysplasia type IIa Focal cortical dysplasia Left hemiplegia Abnormal cortical gyration Delayed speech and language development Cortical dysplasia Hemiplegia Hemiparesis Febrile seizures Focal-onset seizure Autistic behavior Autism Central hypotonia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Nausea and vomiting, related diseases and genetic alterations Neuroblastoma and Lower limb muscle weakness, related diseases and genetic alterations Macrocephaly and Pectus excavatum, related diseases and genetic alterations Cognitive impairment and Pectus carinatum, related diseases and genetic alterations Micrognathia and Craniosynostosis, related diseases and genetic alterations Muscular hypotonia and Nephritis, related diseases and genetic alterations