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Items: 5

1.

Oculodentodigital dysplasia, autosomal recessive

Autosomal recessive form of oculodentodigital dysplasia. [from MONDO]

MedGen UID:
412708
Concept ID:
C2749477
Disease or Syndrome
2.

Lathosterolosis

Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007). [from OMIM]

MedGen UID:
375885
Concept ID:
C1846421
Disease or Syndrome
3.

Cerebellar dysfunction with variable cognitive and behavioral abnormalities

Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020). [from OMIM]

MedGen UID:
766575
Concept ID:
C3553661
Disease or Syndrome
4.

Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly

MedGen UID:
1684871
Concept ID:
C5231413
Disease or Syndrome
5.

2-4 toe cutaneous syndactyly

A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. [from HPO]

MedGen UID:
867262
Concept ID:
C4021622
Anatomical Abnormality
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