| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Intellectual Disability | 100 | + + | |
2 | Lipidoses | 53 | + + | |
3 | Facies | 21 | + + | |
4 | Mental Retardation, X-Linked | 20 | + + | |
5 | Developmental Disabilities | 18 | + + | |
6 | Abnormalities, Multiple | 18 | + + | |
7 | Syndrome | 17 | + + | |
8 | Autistic Disorder | 14 | + + | |
9 | Learning Disorders | 14 | + + | |
10 | Chromosome Deletion | 13 | + + | |
11 | Chromosome Duplication | 13 | + + | |
12 | Microcephaly | 13 | + + | |
13 | Growth Disorders | 11 | + + | |
14 | Child Development Disorders, Pervasive | 10 | + + | |
15 | Mental Disorders | 9 | + + | |
16 | Language Development Disorders | 9 | + + | |
17 | Epilepsy | 8 | + + | |
18 | Fetal Growth Retardation | 8 | + + | |
19 | Craniofacial Abnormalities | 8 | + + | |
20 | Psychomotor Disorders | 7 | + + | |
21 | Muscle Hypotonia | 7 | + + | |
22 | Chromosome Disorders | 7 | + + | |
23 | Body Dysmorphic Disorders | 6 | + + | |
24 | Communication Disorders | 6 | + + | |
25 | Chromosome Aberrations | 6 | + + | |
26 | Overweight | 5 | + + | |
27 | Dwarfism | 5 | + + | |
28 | Fragile X Syndrome | 5 | + + | |
29 | Seizures | 5 | + + | |
30 | Speech Disorders | 5 | + + | |
31 | Obesity | 5 | + + | |
32 | Down Syndrome | 5 | + + | |
33 | Cognition Disorders | 5 | + + | |
34 | Hand Deformities, Congenital | 5 | + + | |
35 | Genetic Diseases, X-Linked | 5 | + + | |
36 | Trisomy | 5 | + + | |
37 | Macrocephaly | 5 | + + | |
38 | Language Disorders | 4 | + + | |
39 | Brain Injury, Chronic | 4 | + + | |
40 | Malformations of Cortical Development | 4 | + + | |
41 | Rubinstein-Taybi Syndrome | 4 | + + | |
42 | Sex Chromosome Aberrations | 4 | + + | |
43 | Costello Syndrome | 4 | + + | |
44 | Stereotypic Movement Disorder | 4 | + + | |
45 | Spasms, Infantile | 4 | + + | |
46 | Chromosome Breakage | 4 | + + | |
47 | Syndactyly | 4 | + + | |
48 | Brachydactyly | 4 | + + | |
49 | Disease Models, Animal | 3 | + + | |
50 | Translocation, Genetic | 3 | + + | |
51 | Attention Deficit Disorder with Hyperactivity | 3 | + + | |
52 | Obesity, Abdominal | 3 | + + | |
53 | Hypogonadism | 3 | + + | |
54 | Congenital Abnormalities | 3 | + + | |
55 | Arachnodactyly | 3 | + + | |
56 | Child Behavior Disorders | 3 | + + | |
57 | Epilepsy, Generalized | 3 | + + | |
58 | Tooth Abnormalities | 3 | + + | |
59 | Blepharophimosis | 3 | + + | |
60 | Epilepsy, Tonic-Clonic | 3 | + + | |
61 | Cataract | 3 | + + | |
62 | Cleft Palate | 3 | + + | |
63 | Transvestism | 3 | + + | |
64 | Angelman Syndrome | 2 | + + | |
65 | Foot Deformities, Congenital | 2 | + + | |
66 | Rett Syndrome | 2 | + + | |
67 | Epilepsies, Myoclonic | 2 | + + | |
68 | Genetic Predisposition to Disease | 2 | + + | |
69 | Ring Chromosomes | 2 | + + | |
70 | Cerebral Palsy | 2 | + + | |
71 | Psychotic Disorders | 2 | + + | |
72 | Tetrasomy | 2 | + + | |
73 | Aphonia | 2 | + + | |
74 | Hirschsprung Disease | 2 | + + | |
75 | Deafness | 2 | + + | |
76 | Bipolar Disorder | 2 | + + | |
77 | Motor Skills Disorders | 2 | + + | |
78 | Hematologic Diseases | 2 | + + | |
79 | Smith-Magenis Syndrome | 2 | + + | |
80 | Bone Diseases, Developmental | 2 | + + | |
81 | Limb Deformities, Congenital | 2 | + + | |
82 | Muscle Spasticity | 2 | + + | |
83 | Stress Disorders, Post-Traumatic | 2 | + + | |
84 | Schizophrenia | 2 | + + | |
85 | Sex Chromosome Disorders | 2 | + + | |
86 | Prader-Willi Syndrome | 2 | + + | |
87 | Neoplasms | 2 | + + | |
88 | Failure to Thrive | 2 | + + | |
89 | Skin Abnormalities | 2 | + + | |
90 | Agenesis of Corpus Callosum | 2 | + + | |
91 | Heart Defects, Congenital | 2 | + + | |
92 | Eye Abnormalities | 2 | + + | |
93 | Nervous System Malformations | 2 | + + | |
94 | Brain Diseases | 2 | + + | |
95 | Sialorrhea | 2 | + + | |
96 | Coloboma | 2 | + + | |
97 | Hypertelorism | 2 | + + | |
98 | Muscular Atrophy | 2 | + + | |
99 | Cerebellar Ataxia | 2 | + + | |
100 | Attention Deficit and Disruptive Behavior Disorders | 2 | + + | |
101 | Ichthyosis | 2 | + + | |
102 | Monosomy | 2 | + + | |
103 | Diseases in Twins | 1 | + + | |
104 | Atrophy | 1 | + + | |
105 | Nervous System Diseases | 1 | + + | |
106 | Brain Damage, Chronic | 1 | + + | |
107 | Chromosome Inversion | 1 | + + | |
108 | Ataxia | 1 | + + | |
109 | Sjogren-Larsson Syndrome | 1 | + + | |
110 | Nails, Malformed | 1 | + + | |
111 | Amino Acid Metabolism, Inborn Errors | 1 | + + | |
112 | Asperger Syndrome | 1 | + + | |
113 | Cleft Lip | 1 | + + | |
114 | Craniofacial Dysostosis | 1 | + + | |
115 | Contracture | 1 | + + | |
116 | Hyperkinesis | 1 | + + | |
117 | Schizophrenia, Paranoid | 1 | + + | |
118 | Polydactyly | 1 | + + | |
119 | Movement Disorders | 1 | + + | |
120 | Dementia | 1 | + + | |
121 | Chromosome Fragility | 1 | + + | |
122 | Optic Atrophy | 1 | + + | |
123 | Hypertrichosis | 1 | + + | |
124 | Scoliosis | 1 | + + | |
125 | Aniridia | 1 | + + | |
126 | Alopecia | 1 | + + | |
127 | Anophthalmos | 1 | + + | |
128 | Oculocerebrorenal Syndrome | 1 | + + | |
129 | Phenylketonurias | 1 | + + | |
130 | Williams Syndrome | 1 | + + | |
131 | Apraxias | 1 | + + | |
132 | Memory Disorders | 1 | + + | |
133 | Muscular Dystrophies | 1 | + + | |
134 | Carbohydrate Metabolism, Inborn Errors | 1 | + + | |
135 | Hearing Disorders | 1 | + + | |
136 | Mood Disorders | 1 | + + | |
137 | Brain Injuries | 1 | + + | |
138 | Coffin-Lowry Syndrome | 1 | + + | |
139 | Epilepsies, Partial | 1 | + + | |
140 | Fetal Alcohol Spectrum Disorders | 1 | + + | |
141 | Self Mutilation | 1 | + + | |
142 | Hearing Loss | 1 | + + | |
143 | WAGR Syndrome | 1 | + + | |
144 | Hydrocephalus | 1 | + + | |
145 | Hyperventilation | 1 | + + | |
146 | Mouth Abnormalities | 1 | + + | |
147 | Smith-Lemli-Opitz Syndrome | 1 | + + | |
148 | Sleep Disorders | 1 | + + | |
149 | Blepharoptosis | 1 | + + | |
150 | Craniosynostoses | 1 | + + | |
151 | Laurence-Moon Syndrome | 1 | + + | |
152 | Microphthalmos | 1 | + + | |
153 | Personality Disorders | 1 | + + | |
154 | Disease Progression | 1 | + + | |
155 | Chronic Disease | 1 | + + | |
156 | Aneuploidy | 1 | + + | |
157 | Osteochondrodysplasias | 1 | + + | |
158 | De Lange Syndrome | 1 | + + | |
159 | Feeding and Eating Disorders of Childhood | 1 | + + | |
160 | Bardet-Biedl Syndrome | 1 | + + | |
161 | Pigmentation Disorders | 1 | + + | |
162 | Ichthyosis, X-Linked | 1 | + + | |
163 | Puberty, Delayed | 1 | + + | |
164 | Vestibular Diseases | 1 | + + | |
165 | Dysarthria | 1 | + + | |
166 | Basal Ganglia Diseases | 1 | + + | |
167 | Spastic Paraplegia, Hereditary | 1 | + + | |
168 | Exostoses, Multiple Hereditary | 1 | + + | |
169 | Musculoskeletal Abnormalities | 1 | + + | |
170 | Delirium, Dementia, Amnestic, Cognitive Disorders | 1 | + + | |
171 | Acrocephalosyndactylia | 1 | + + | |
172 | Hypospadias | 1 | + + | |
173 | Quadriplegia | 1 | + + | |
174 | Hemiplegia | 1 | + + | |
175 | Auditory Perceptual Disorders | 1 | + + | |
176 | alpha-Thalassemia | 1 | + + | |
177 | Ectodermal Dysplasia | 1 | + + | |
178 | Noonan Syndrome | 1 | + + | |
179 | Micrognathism | 1 | + + | |
180 | Pica | 1 | + + | |
181 | Arthrogryposis | 1 | + + | |
182 | Alzheimer Disease | 1 | + + | |
183 | Postpoliomyelitis Syndrome | 1 | + + | |
184 | Hereditary Sensory and Autonomic Neuropathies | 1 | + + | |
185 | Dysostoses | 1 | + + | |
186 | Kyphosis | 1 | + + | |