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Items: 1 to 20 of 6248

1.

Congenital secretory sodium diarrhea 3

Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. [from MONDO]

MedGen UID:
1778108
Concept ID:
C5441927
2.

Cardioacrofacial dysplasia 1

Cardioacrofacial dysplasia-1 (CAFD1) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features (Palencia-Campos et al., 2020). Genetic Heterogeneity of Cardioacrofacial Dysplasia CAFD2 (619143) is caused by mutation in the PRKACB gene (176892) on chromosome 1p31. [from OMIM]

MedGen UID:
1777656
Concept ID:
C5436885
Disease or Syndrome
3.

Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) is a syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Craniofacial dysmorphisms, while variable, include round face, prognathism, depressed nasal bridge, and cleft or high-arched palate. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects (summary by Humbert et al., 2020). [from OMIM]

MedGen UID:
1777442
Concept ID:
C5436821
Disease or Syndrome
4.

Deafness, autosomal dominant 78

Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by Mutai et al., 2020). [from OMIM]

MedGen UID:
1777362
Concept ID:
C5436768
Disease or Syndrome
5.

Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by Schneeberger et al., 2020). [from OMIM]

MedGen UID:
1776912
Concept ID:
C5436585
Disease or Syndrome
6.

Vissers-Bodmer syndrome

Vissers-Bodmer syndrome (VIBOS) is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy. The phenotype is highly variable: some individuals have only mild learning difficulties, whereas others have severe cognitive impairment with IQ in the 50s. Many patients have behavioral abnormalities, including autism spectrum disorder, ADD, ADHD, obsessive-compulsive disorder, and impulsivity. Other common features include growth impairment abnormalities, hypotonia, and distal skeletal defects, such as foot and hand deformities. Less common features include seizures, brain abnormalities on MRI, feeding problems, and joint hypermobility. Most individuals have dysmorphic facial features, but there is no recognizable gestalt (summary by Vissers et al., 2020). [from OMIM]

MedGen UID:
1776566
Concept ID:
C5436647
Disease or Syndrome
7.

Spermatogenic failure 45

Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1776221
Concept ID:
C5436791
Disease or Syndrome
8.

Oocyte maturation defect 8

Oocyte maturation defect-8 (OOMD8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage (Zheng et al., 2020). For a discussion of genetic heterogeneity of OOMD, see OOMD1 (615774). [from OMIM]

MedGen UID:
1776094
Concept ID:
C5436597
Disease or Syndrome
9.

Neurodevelopmental disorder with alopecia and brain abnormalities

Bachmann-Bupp syndrome (BABS) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, dysmorphic features, and characteristic neuroimaging features (summary by Rodan et al., 2018). [from OMIM]

MedGen UID:
1775930
Concept ID:
C5436741
Disease or Syndrome
10.

Combined oxidative phosphorylation deficiency 47

MedGen UID:
1775535
Concept ID:
C5436476
Disease or Syndrome
11.

Mitochondrial complex 1 deficiency, nuclear type 36

Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood (Alahmad et al., 2020). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. [from OMIM]

MedGen UID:
1773965
Concept ID:
C5436935
Disease or Syndrome
12.

Cone-rod synaptic disorder syndrome, congenital nonprogressive

Congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS) is characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors (Mechaussier et al., 2020). [from OMIM]

MedGen UID:
1773574
Concept ID:
C5436505
Disease or Syndrome
13.

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
14.

Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia

Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 (605078)-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by Mackenzie et al., 2017). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). [from OMIM]

MedGen UID:
1771903
Concept ID:
C5436882
Disease or Syndrome
15.

Neurodegeneration, infantile-onset, biotin-responsive

Infantile-onset biotin-responsive neurodegeneration (NERIB) is an autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year or so of life. Some patients may have normal early development before the onset of symptoms. Affected individuals show growth retardation with decreasing head circumference and poor feeding. More variable features may include seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum. Treatment with biotin, pantothenic acid, and alpha-lipoic acid has been shown to result in clinical improvement (summary by Byrne et al., 2019). [from OMIM]

MedGen UID:
1771692
Concept ID:
C5436520
Disease or Syndrome
16.

Renal tubular acidosis, distal, with hemolytic anemia

Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA). [from GeneReviews]

MedGen UID:
1771439
Concept ID:
C5436235
Disease or Syndrome
17.

Mitochondrial complex 4 deficiency, nuclear type 20

Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (Baertling et al., 2017). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

MedGen UID:
1771040
Concept ID:
C5436726
Disease or Syndrome
18.

Rajab interstitial lung disease with brain calcifications 2

Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658). [from OMIM]

MedGen UID:
1770895
Concept ID:
C5436603
Disease or Syndrome
19.

Mitochondrial DNA depletion syndrome 19

MedGen UID:
1770258
Concept ID:
C5436514
Disease or Syndrome
20.

Lymphoproliferative syndrome 1, X-linked

X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine. [from GeneReviews]

MedGen UID:
1770239
Concept ID:
C5399825
Disease or Syndrome
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