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Items: 18

1.

Developmental and epileptic encephalopathy, 9

Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. [from OMIM]

MedGen UID:
338393
Concept ID:
C1848137
Disease or Syndrome
2.

Generalized epilepsy-paroxysmal dyskinesia syndrome

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. [from ORDO]

MedGen UID:
1801137
Concept ID:
C5574945
Disease or Syndrome
3.

Pontocerebellar hypoplasia type 2E

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). [from OMIM]

MedGen UID:
862925
Concept ID:
C4014488
Disease or Syndrome
4.

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. [from ORDO]

MedGen UID:
816016
Concept ID:
C3809686
Mental or Behavioral Dysfunction
5.

Orofaciodigital syndrome V

Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017). [from OMIM]

MedGen UID:
358131
Concept ID:
C1868118
Disease or Syndrome
6.

Coenzyme q10 deficiency, primary, 9

Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). [from OMIM]

MedGen UID:
1740444
Concept ID:
C5436638
Disease or Syndrome
7.

Developmental and epileptic encephalopathy 89

Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by Chatron et al., 2020). [from OMIM]

MedGen UID:
1761611
Concept ID:
C5436853
Disease or Syndrome
8.

Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency (Costain et al., 2019). [from OMIM]

MedGen UID:
1676579
Concept ID:
C5193104
Disease or Syndrome
9.

Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by Vandervore et al., 2019). [from OMIM]

MedGen UID:
1684695
Concept ID:
C5231480
Disease or Syndrome
10.

Developmental and epileptic encephalopathy, 79

Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1684738
Concept ID:
C5231410
Disease or Syndrome
11.

Mitochondrial complex 4 deficiency, nuclear type 15

Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see 256000) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by Hallmann et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

MedGen UID:
1773430
Concept ID:
C5436712
Disease or Syndrome
12.

Spastic paraplegia 82, autosomal recessive

Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

MedGen UID:
1710411
Concept ID:
C5394037
Disease or Syndrome
13.

Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (NEDHBA) is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles (Fasham et al., 2023). [from OMIM]

MedGen UID:
1053175
Concept ID:
CN377037
Disease or Syndrome
14.

Developmental and epileptic encephalopathy 108

Developmental and epileptic encephalopathy-108 (DEE108) is characterized by the onset of multiple types of seizures in the first 2 years of life. Affected individuals often have normal early development before the onset of seizures, after which they show developmental regression with loss of skills, particularly language; most are nonverbal or speak only a few words. Other features included mildly delayed walking, unsteady gait, hypotonia, and behavioral abnormalities, such as ADHD or autism (Spinelli et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1824026
Concept ID:
C5774253
Disease or Syndrome
15.

Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy

Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures (Coulter et al., 2020). [from OMIM]

MedGen UID:
1755716
Concept ID:
C5436747
Disease or Syndrome
16.

Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020). [from OMIM]

MedGen UID:
1731507
Concept ID:
C5436783
Disease or Syndrome
17.

Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020). [from OMIM]

MedGen UID:
1764121
Concept ID:
C5436788
Disease or Syndrome
18.

Bilateral tonic-clonic seizure with generalized onset

A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. [from HPO]

MedGen UID:
1368929
Concept ID:
C4476643
Sign or Symptom
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