Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Early childhood caries |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
2 |
Toddler |
Is a |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
|
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
Early childhood developmental disability (disorder) |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. |
Occurrence |
False |
Early childhood (qualifier value) |
Inferred relationship |
Some |
3 |
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) |
Occurrence |
False |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
2 |
Reactive attachment disorder of early childhood |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |
Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21. |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
2 |
Frequent night waking in early childhood (finding) |
Occurrence |
True |
Early childhood (qualifier value) |
Inferred relationship |
Some |
1 |