Phenotype #0000325603
| Individual ID |
00414274 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NCFD |
| Phenotype details |
oligohydraminos, incucbated for 7 days for tachypnea; 39w-brith, weight (2800gm), length (49cm), OFC (34.7cm); height 83cm (-1 SD); weight 10kg (-2SD); OFC 45.5cm (-2.3SD); hypotonia in infancy; mild failure-to-thrive; mild developmental delay, 9m-head support, 14m-sit, 1y9m-walk for 4-10 meters; no nonverbal communication (able to pronounce few words); moderate developmental dealy/ intellectual disability; not yet able to perform basic activities of daily living; no regression; no progressive course; excessive clapping hands, smiling; no seizures; EEG normal; hypotonia, reflexes present; plagiocephaly, brachycephaly, bifrontal prominent; cranio-facial asymmetry, depression over glabella, sparse eyebrows, bilateral ptosis, shorter left palpebral fissure, hypertelorism, infraorbital creases, full nasal tip, short columella, low-set ears, absent superior crus of antihelix, uplifted ear lobes, small mouth, full tented upper lip, thin lower lip vermilion, maxillary overbite, retrognathia; sparse sclap/eye brows hair, mild hypoplasitc nails; bilateral incomplete transverse palmar crease, normal fingers and nails, mild proximal syndactyly of right second and third fingers, broad big toes, short 2-5th toes, prominent sandal gap with deep groove over medial aspect second toe; mild inconsistent stramismus; no hearing loss; Immaturity of myelination (delayed- or hypo- myelination pattern) along with cerebellar vermian hypoplasia and reduced parenchymal volume in the frontal lobes; no congenital heart defects; abdominal pelvic ultra-sound showed left testis, left inguinal canal, mild left tunical hydrocele; 1d-genital anomalies, anchored phallus, shawl scrotum, absent left tesits; mild feeding difficulties |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
01y11m (1 year, 11 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-07-24 15:38:38 +02:00 (CEST) |
| Date last edited |
N/A |
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