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Items: 4

1.

Holoprosencephaly 7

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). [from OMIM]

MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
2.

Gaze palsy, familial horizontal, with progressive scoliosis, 2

MedGen UID:
1393733
Concept ID:
C4479640
Disease or Syndrome
3.

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020). [from OMIM]

MedGen UID:
1786150
Concept ID:
C5543332
Disease or Syndrome
4.

Fusion of the left and right thalami

A developmental defect characterized by fusion of the left and right halves of the thalamus. [from HPO]

MedGen UID:
331859
Concept ID:
C1834930
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