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Items: 4

1.

Complex cortical dysplasia with other brain malformations 6

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. [from MONDO]

MedGen UID:
862720
Concept ID:
C4014283
Disease or Syndrome
2.

Neurodevelopmental disorder with alopecia and brain abnormalities

Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss. [from GeneReviews]

MedGen UID:
1775930
Concept ID:
C5436741
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.

Endocrine-cerebro-osteodysplasia syndrome

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. [from ORDO]

MedGen UID:
390740
Concept ID:
C2675227
Disease or Syndrome

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