C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
336 |
579 |
C0432072 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
|
|
335 |
611 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
303 |
505 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
237 |
417 |
C0000772 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
237 |
350 |
C1843367 |
Poor school performance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
211 |
411 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |
C0026650 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
162 |
240 |
C4551563 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
|
160 |
246 |
C1858120 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
128 |
164 |
C0454644 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
|
Abnormality of the nervous system
|
124 |
192 |
C4021085 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the nervous system
|
103 |
131 |
C2315100 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
|
Growth abnormality
|
89 |
118 |
C0035334 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
88 |
420 |
C1384666 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the ear
|
88 |
257 |
C0424503 |
Dysmorphic facies
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
88 |
106 |
C1849265 |
Overgrowth
|
phenotype |
|
Finding
|
|
Growth abnormality
|
81 |
93 |
C0854723 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
78 |
218 |
C0026351 |
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
74 |
93 |
C0027672 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
|
|
67 |
6385 |
C2243051 |
Large head (disorder)
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
64 |
116 |
C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
63 |
92 |
C0020534 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
|
Abnormality of the eye
|
63 |
77 |
C0028738 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
62 |
83 |
C0038379 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
61 |
85 |