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Items: 10

1.

Hereditary spastic paraplegia 47

AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe. [from GeneReviews]

MedGen UID:
481368
Concept ID:
C3279738
Disease or Syndrome
2.

Hereditary spastic paraplegia 51

AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe. [from GeneReviews]

MedGen UID:
462406
Concept ID:
C3151056
Disease or Syndrome
3.

Luscan-Lumish syndrome

Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015) [from OMIM]

MedGen UID:
898669
Concept ID:
C4085873
Disease or Syndrome
4.

Spastic paraplegia 52, autosomal recessive

AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe. [from GeneReviews]

MedGen UID:
481373
Concept ID:
C3279743
Disease or Syndrome
5.

Chromosome Xp11.23-p11.22 duplication syndrome

Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. [from ORDO]

MedGen UID:
440690
Concept ID:
C2749022
Disease or Syndrome
6.

X-linked intellectual disability, van Esch type

Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019). [from OMIM]

MedGen UID:
930741
Concept ID:
C4305072
Disease or Syndrome
7.

Intellectual disability, X-linked 61

Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2019). Also see Fryns syndrome (229850), an autosomal recessive disorder with overlapping features. [from OMIM]

MedGen UID:
924419
Concept ID:
C4283894
Disease or Syndrome
8.

Intellectual disability, autosomal recessive 66

MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span (Philips et al., 2017). [from OMIM]

MedGen UID:
1648460
Concept ID:
C4748732
Disease or Syndrome
9.

Intellectual developmental disorder, autosomal dominant 73

Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022). [from OMIM]

MedGen UID:
1841272
Concept ID:
C5830636
Mental or Behavioral Dysfunction
10.

Excessive shyness

Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others. [from HPO]

MedGen UID:
20741
Concept ID:
C0037020
Social Behavior
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