- Poor head control (HP:0002421, a Human Phenotype Ontology term): Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months. Evidence: PCS. Frequency: 4/4. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:32004447)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 2/4. (PMID:32004447)
- Protruding tongue (HP:0010808, a Human Phenotype Ontology term): Tongue extending beyond the alveolar ridges or teeth at rest. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- Gray matter heterotopia (HP:0002282, a Human Phenotype Ontology term): Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- Infantile spasms (HP:0012469, a Human Phenotype Ontology term): Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). Evidence: PCS. Frequency: 3/4. (PMID:32004447)
- Dry skin (HP:0000958, a Human Phenotype Ontology term): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/4. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:32004447)
- Cerebral visual impairment (HP:0100704, a Human Phenotype Ontology term): A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. Evidence: PCS. Frequency: 2/4. (PMID:32004447)
- Tracheomalacia (HP:0002779, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Gingival overgrowth (HP:0000212, a Human Phenotype Ontology term): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: PCS. Frequency: 2/4. (PMID:32004447)
- Laryngomalacia (HP:0001601, a Human Phenotype Ontology term): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. Frequency: 1/4. (PMID:32004447)
- Wide mouth (HP:0000154, a Human Phenotype Ontology term): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Flat occiput (HP:0005469, a Human Phenotype Ontology term): Reduced convexity of the occiput (posterior part of skull). Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Vesicoureteral reflux (HP:0000076, a Human Phenotype Ontology term): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: PCS. Frequency: 2/4. (PMID:32004447)
- Absent speech (HP:0001344, a Human Phenotype Ontology term): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- Thick eyebrow (HP:0000574, a Human Phenotype Ontology term): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 2/4. (PMID:32004447)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Low anterior hairline (HP:0000294, a Human Phenotype Ontology term): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Severe global developmental delay (HP:0011344, a Human Phenotype Ontology term): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Horizontal eyebrow (HP:0011228, a Human Phenotype Ontology term): An eyebrow that extends straight across the brow, without curve. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Gastrostomy tube feeding in infancy (HP:0011471, a Human Phenotype Ontology term): Feeding problem necessitating gastrostomy tube feeding. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- High anterior hairline (HP:0009890, a Human Phenotype Ontology term): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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). Evidence: PCS. (PMID:32004447)
- Recurrent viral infections (HP:0004429, a Human Phenotype Ontology term): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. Frequency: 4/4. (PMID:32004447)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 2/4. (PMID:32004447)
- Neonatal respiratory distress (HP:0002643, a Human Phenotype Ontology term): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 4/4. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:32004447)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
- Brachycephaly (HP:0000248, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 1/4. (PMID:32004447)
These phenotypes are associated with the disease neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (OMIM:618797, an entry in Online Mendelian Inheritance in Man).