| HPO |
HP:0001284 |
Areflexia |
"Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). |
HP:0001315 |
| HPO |
HP:0002483 |
Bulbar signs |
— |
— |
HP:0012638 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0003552 |
Muscle stiffness |
"A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson] |
— |
HP:0011804 |
| HPO |
HP:0000239 |
Large fontanelles |
"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson] |
There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). |
HP:0011328 |
| HPO |
HP:0001561 |
Polyhydramnios |
"The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] |
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. |
HP:0001560 |
| HPO |
HP:0001558 |
Decreased fetal movement |
"An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
— |
HP:0001557 |
| HPO |
HP:0003811 |
Neonatal death |
"Death within the first 28 days of life." [HPO:probinson] |
— |
HP:0011420 |
| HPO |
HP:0003798 |
Nemaline bodies |
"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380] |
This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with\nMGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). |
HP:0100303 |
| HPO |
HP:0002304 |
Akinesia |
"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [HPO:probinson] |
Akinesia is a typical extrapyramidal abnormality. |
HP:0002374 |
| HPO |
HP:0001522 |
Death in infancy |
"Death within the first 24 months of life." [HPO:probinson] |
— |
HP:0011420 |
| HPO |
HP:0003557 |
Increased variability in muscle fiber diameter |
"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
This finding can be demonstrated by muscle biopsy. |
HP:0012084 |
| HPO |
HP:0002804 |
Arthrogryposis multiplex congenita |
"Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160] |
Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. |
HP:0002803 |
| HPO |
HP:0000047 |
Hypospadias |
"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| HPO |
HP:0002878 |
Respiratory failure |
"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] |
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). |
HP:0002093 |
| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0001181 |
Adducted thumb |
"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [PMID:19125433] |
The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. |
HP:0001172 |
| HPO |
HP:0003819 |
Death in childhood |
"Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] |
previous def was: 'has part' some \n(premature and ('inheres in' some death) and ('has modifier' some abnormal)) |
HP:0011420 |
| OMIM |
OMIM:256030 |
NEMALINE MYOPATHY 2; NEM2 |
— |
— |
— |