Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
2q33.1 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Cognitive communication disorder (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
GRN-related frontotemporal dementia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Frontotemporal dementia with parkinsonism-17 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Visual aura phenomena featuring shimmering, zigzag patterns that resemble the walls of a medieval fortress, hence the name fortification. They can occur with or without a scotoma (a partial loss of vision). |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Familial multiple system tauopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Pulmonary valve regurgitation due to traumatic injury (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
A diminished or disrupted internal state of readiness or motivation, resulting in reduced ability to initiate, sustain or direct purposeful behavior or activities. It is often seen in conditions like depression, schizophrenia, or certain neurological disorders. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |